FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3332178014 Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332179018 GAPO syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332180015 GAPO (growth retardation, alopecia, pseudoanodontia, optic atrophy) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402708016 A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402709012 A rare, genetic, multiple congenital anomalies syndrome characterised by growth retardation, alopecia, pseudoanodontia and ocular manifestations. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332176013 Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3332176013 Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332178014 Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3332178014 Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332179018 GAPO syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332180015 GAPO (growth retardation, alopecia, pseudoanodontia, optic atrophy) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5402708016 A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402709012 A rare, genetic, multiple congenital anomalies syndrome characterised by growth retardation, alopecia, pseudoanodontia and ocular manifestations. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
650971000274114 Wachstumsverzögerung-Alopezie-Pseudoanodontie-Optikusatrophie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3424071001000118 GAPO-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6237121000241113 syndrome de retard de croissance, alopécie, pseudoanodontie et atrophie optique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6237131000241110 syndrome GAPO (growth retardation, alopecia, pseudoanodontia, optic atrophy) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6237121000241113 syndrome de retard de croissance, alopécie, pseudoanodontie et atrophie optique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6237131000241110 syndrome GAPO (growth retardation, alopecia, pseudoanodontia, optic atrophy) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
650971000274114 Wachstumsverzögerung-Alopezie-Pseudoanodontie-Optikusatrophie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3424071001000118 GAPO-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a Ectodermal dysplasia with hair-tooth defects true Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a Inherited optic neuropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 7
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Finding site Optic nerve structure false Inferred relationship Existential restriction modifier (core metadata concept) 7
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 6
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Finding site Optic nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Finding site Tooth structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a Absence of teeth as a result of impaction, delayed eruption, exfoliation or extraction. true Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a Malformation of teeth (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Interprets Tooth presence true Inferred relationship Existential restriction modifier (core metadata concept) 5
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 5
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Finding site Dentition true Inferred relationship Existential restriction modifier (core metadata concept) 7
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 7
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 9
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 9
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start