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Concept IDs
SNOMEDCT
733072002
conceptId
733072002
fullName
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder)
preferred
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder)
Stimmler syndrome
acceptable
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome
preferredName
Stimmler syndrome
semanticTag
disorder
synonym
Stimmler syndrome
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome
description
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder)
Stimmler syndrome
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome
active
true
activeDate
Jul 31, 2017
effectiveDate
Jul 31, 2017
moduleId
900000000000207008
definitionStatusId
900000000000074008
finding site
(76993005) Enamel structure (113331007) Endocrine structure (89545001) Face structure (69536005) Head structure
finding site is-a
(442083009) Anatomical or acquired body structure (body structure) (91723000) Anatomical structure (113343008) Body organ structure (38866009) Body part structure (52530000) Body region structure (123037004) Body structure (91689009) Body system structure (85756007) Body tissue structure (305072005) Breast and endocrine structures (119210004) Digestive organ part (49596003) Digestive organ structure (86762007) Digestive structure (709519000) Digestive tract part (body structure) (51289009) Digestive tract structure (76993005) Enamel structure (113331007) Endocrine structure (303340002) Face and neck structure (89545001) Face structure (774007) Head and neck structure (123850002) Head part (69536005) Head structure (661005) Jaw region structure (127945006) Mouth region part (123851003) Mouth region structure (272660004) Oral hard tissue structure (91717005) Organ part (138875005) SNOMED CT Concept (75628001) Structure of crown of tooth (423857001) Structure of half of body lateral to midsagittal plane (body structure) (128456003) Structure of hard tissue of tooth (700016008) Structure of internal part of mouth (786880003) Structure of jaw region within part of mouth (421371008) Structure of lateral half of head (312533001) Structure of mouth and/or pharynx (406121007) Structure of subregion of head (410613002) Tooth part (body structure) (38199008) Tooth structure (28035005) Tooth, gum, and/or supporting structure (body structure) (70104002) Upper body part structure (128262006) Upper body structure (127868003) Upper digestive tract structure
occurrence
(255399007) Congenital
has interpretation is-a
(281300000) Below reference range (288533004) Change values (263703002) Changed status (1250004) Decreased (272520006) Degree findings (288531002) Finding status values (260245000) Findings values (442499005) Interpretation value (394844007) Outside reference range (qualifier value) (362981000) Qualifier value (442705008) Reference range interpretation value (138875005) SNOMED CT Concept
has interpretation
(281300000) Below reference range
associated morphology
(41086002) Congenital smallness (55199003) Hypoplasia (49755003) Morphologically abnormal structure
pathological process
(308490002) Pathological developmental process
interprets
(169876006) Birth head circumference (271603002) Height / growth measure
associated morphology is-a
(123037004) Body structure (41086002) Congenital smallness (57697001) Growth alteration (55199003) Hypoplasia (41010001) Maturation defect (49755003) Morphologically abnormal structure (118956008) Morphologically altered structure (138875005) SNOMED CT Concept
interprets is-a
(169876006) Birth head circumference (248326004) Body measure (248365001) Circumference measure (363788007) Clinical history/examination observable (observable entity) (363789004) General characteristic of patient (363812007) Head circumference (363811000) Head circumference measure (271603002) Height / growth measure (363787002) Observable entity (138875005) SNOMED CT Concept
occurrence is-a
(255399007) Congenital (272099008) Descriptor (qualifier value) (282032007) Periods of life (703763000) Precondition value (qualifier value) (362981000) Qualifier value (138875005) SNOMED CT Concept (281586009) Special atomic mapping values (303102005) Special disorder atoms (307142001) Temporal periods (272103003) Time patterns
pathological process is-a
(308490002) Pathological developmental process (308489006) Pathological process (719982003) Process (qualifier value) (362981000) Qualifier value (138875005) SNOMED CT Concept (281586009) Special atomic mapping values (303102005) Special disorder atoms
Child Concepts
Parent Concepts
(65094009) Multiple malformation syndrome with facial defects as major feature (85995004) Autosomal recessive hereditary disorder (363104002) Hereditary disorder of endocrine system (disorder) (78494001) Amelogenesis imperfecta (110359009) Intellectual disability (73211009) Diabetes mellitus (237836003) Short stature disorder (26597004) Enamel hypoplasia (237911005) Disorder of amino acid and organic acid metabolism (1148758003) Congenital microcephaly (disorder)