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722455002: Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3332208015 Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3332209011 Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome en Synonym Active Case insensitive SNOMED CT core
3332210018 Da Silva syndrome en Synonym Active Case sensitive SNOMED CT core
3332211019 This syndrome has characteristics of hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a Congenital anomaly of skin false Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a Congenital anomaly of face false Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Occurrence Congenital true Inferred relationship Some 2
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Finding site Corpus callosum structure true Inferred relationship Some 2
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Occurrence Congenital true Inferred relationship Some 1
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Associated morphology Hypoplasia true Inferred relationship Some 2
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Pathological process Pathological developmental process false Inferred relationship Some 3
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Finding site Brain structure false Inferred relationship Some 1
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Associated morphology Congenital smallness true Inferred relationship Some 1
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Interprets Birth head circumference true Inferred relationship Some 4
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Has interpretation Below reference range true Inferred relationship Some 4
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Finding site Structure of head true Inferred relationship Some 1
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a Congenital microcephaly true Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Interprets Intellectual ability true Inferred relationship Some 5
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Has interpretation Impaired true Inferred relationship Some 5
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Interprets Adaptation behaviour true Inferred relationship Some 6
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Has interpretation Impaired true Inferred relationship Some 6
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a Microcephalus false Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a Intellectual disability false Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a Neoplasm of skin of ear false Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a Skin tag true Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a Hypoplasia of corpus callosum true Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a Benign tumour of external ear false Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a Benign neoplasm of skin of head and neck false Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a Auditory system hereditary disorder false Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a Mass of preauricular region true Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Associated morphology Congenital smallness false Inferred relationship Some 3
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Occurrence Congenital true Inferred relationship Some 3
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Finding site Brain structure false Inferred relationship Some 3
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Occurrence Congenital false Inferred relationship Some 4
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Occurrence Congenital false Inferred relationship Some 5
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Associated morphology Fibroepithelial polyp true Inferred relationship Some 3
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Finding site Skin structure of preauricular region true Inferred relationship Some 3
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Associated morphology Hypoplasia false Inferred relationship Some 5
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Finding site Corpus callosum structure false Inferred relationship Some 5
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Associated morphology Fibroepithelial polyp false Inferred relationship Some 4
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Finding site Skin structure of preauricular region false Inferred relationship Some 4
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a Benign neoplasm of skin of face true Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag 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

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

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