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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
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder)
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
has interpretation
(281300000) Below reference range (qualifier value)
associated morphology
(41086002) Congenital smallness (morphologic abnormality) (55199003) Hypoplasia (morphologic abnormality) (49755003) Morphologically abnormal structure (morphologic abnormality)
pathological process
(308490002) Pathological developmental process (qualifier value)
finding site
(76993005) Enamel structure (body structure) (89545001) Face structure (body structure) (69536005) Head structure (body structure) (113331007) Structure of endocrine system
interprets
(169876006) Birth head circumference (observable entity) (271603002) Height / growth measure (observable entity)
occurrence
(255399007) Congenital (qualifier value)
Child Concepts
Parent Concepts
(65094009) Multiple malformation syndrome with facial defects as major feature (disorder) (85995004) Autosomal recessive hereditary disorder (disorder) (363104002) Hereditary disorder of endocrine system (78494001) Amelogenesis imperfecta (disorder) (110359009) Intellectual disability (disorder) (73211009) Diabetes mellitus (disorder) (237836003) Short stature disorder (disorder) (26597004) Enamel hypoplasia (disorder) (237911005) Disorder of amino acid and organic acid metabolism (disorder) (1148758003) Congenital microcephaly