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721843003: Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3332176013 Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3332178014 Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome en Synonym Active Case insensitive SNOMED CT core
3332179018 GAPO syndrome en Synonym Active Case sensitive SNOMED CT core
3332180015 GAPO (growth retardation, alopecia, pseudoanodontia, optic atrophy) syndrome en Synonym Active Case sensitive SNOMED CT core
3332181016 A multiple congenital anomalies syndrome. Approximately 38 patients have been reported in literature since the first description in 1947. Patients have a short stature and a typical facies. Scalp hair may be primarily present but disappears after the first months of life leading to complete or partial alopecia. Eyebrows and/or eyelashes are sparse. Primary and permanent teeth are formed but fail to erupt. Ocular manifestations may include progressive optic atrophy, glaucoma and strabismus. Otorhinolaryngologic features include choanal atresia and deafness. Patients have a mild intellectual deficit. Some patients have also been reported with umbilical hernia, hyperextensible joints, osseous anomalies and cutaneous manifestations. Homozygous nonsense or splicing mutations in the ANTXR1 gene, encoding anthrax toxin receptor 1 cause GAPO Syndrome. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
GAPO syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
GAPO syndrome Occurrence Congenital true Inferred relationship Some 1
GAPO syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
GAPO syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
GAPO syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 4
GAPO syndrome Occurrence Congenital true Inferred relationship Some 2
GAPO syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
GAPO syndrome Finding site Optic nerve structure true Inferred relationship Some 1
GAPO syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
GAPO syndrome Finding site Face structure true Inferred relationship Some 2
GAPO syndrome Associated morphology Dysplasia true Inferred relationship Some 3
GAPO syndrome Pathological process Pathological developmental process false Inferred relationship Some 5
GAPO syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 5
GAPO syndrome Finding site Tooth structure false Inferred relationship Some 5
GAPO syndrome Is a Digestive system hereditary disorder false Inferred relationship Some
GAPO syndrome Finding site Hair structure true Inferred relationship Some 4
GAPO syndrome Is a Developmental hereditary disorder true Inferred relationship Some
GAPO syndrome Interprets Height / growth measure true Inferred relationship Some 6
GAPO syndrome Is a Hereditary disorder of tooth true Inferred relationship Some
GAPO syndrome Is a False anodontia true Inferred relationship Some
GAPO syndrome Is a Malformation of teeth true Inferred relationship Some
GAPO syndrome Interprets Tooth presence true Inferred relationship Some 5
GAPO syndrome Has interpretation Absent true Inferred relationship Some 5
GAPO syndrome Finding site Dentition true Inferred relationship Some 7
GAPO syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 7
GAPO syndrome Pathological process Pathological developmental process true Inferred relationship Some 7
GAPO syndrome Interprets Intellectual ability true Inferred relationship Some 8
GAPO syndrome Has interpretation Impaired true Inferred relationship Some 8
GAPO syndrome Interprets Adaptation behaviour true Inferred relationship Some 9
GAPO syndrome Has interpretation Impaired true Inferred relationship Some 9
GAPO syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
GAPO syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
GAPO syndrome Occurrence Congenital true Inferred relationship Some 3
GAPO syndrome Occurrence Congenital true Inferred relationship Some 4
GAPO syndrome Associated morphology Developmental abnormality false Inferred relationship Some 5
GAPO syndrome Occurrence Congenital false Inferred relationship Some 5
GAPO syndrome Finding site Skin structure false Inferred relationship Some 5
GAPO syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 3
GAPO syndrome Finding site Ectoderm structure true Inferred relationship Some 3
GAPO syndrome Associated morphology Developmental abnormality false Inferred relationship Some 4
GAPO syndrome Finding site Skin structure false Inferred relationship Some 4
GAPO syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
GAPO syndrome Is a Intellectual disability false Inferred relationship Some
GAPO syndrome Is a Short stature disorder true Inferred relationship Some
GAPO syndrome Is a Ectodermal dysplasia with hair-tooth defects true Inferred relationship Some
GAPO syndrome Is a Inherited optic neuropathy true Inferred relationship Some
GAPO syndrome Is a Hereditary disorder of nervous system false Inferred relationship Some
GAPO syndrome Is a Hereditary disorder of the visual system false Inferred relationship Some
GAPO syndrome Finding site Face structure false Inferred relationship Some 4
GAPO syndrome Occurrence Congenital false Inferred relationship Some 6
GAPO syndrome Occurrence Congenital true Inferred relationship Some 7
GAPO syndrome Finding site Optic nerve structure false Inferred relationship Some 7
GAPO syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 6
GAPO syndrome Finding site Ectoderm structure false Inferred relationship Some 6
GAPO syndrome Is a Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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