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722455002: Intellectual disability, hypoplastic corpus callosum, preauricular tag 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
3332208015 Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332209011 Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332210018 Da Silva syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402948018 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402949014 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. en Definition Active Entire term case sensitive (core metadata concept) 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 (disorder) Is a Microcephalus false Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a Mental retardation false Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a Neoplasm of skin of ear false Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a Skin tag true Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a Hypoplasia of corpus callosum (disorder) true Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a Benign neoplasm of external ear (disorder) false Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a Benign neoplasm of skin of head and neck false Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a Auditory system hereditary disorder false Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a Mass of preauricular region (finding) true Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 3
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Finding site Brain structure false Inferred relationship Some 3
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Associated morphology Fibroepithelial polyp true Inferred relationship Some 3
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Finding site Skin structure of preauricular region true Inferred relationship Some 3
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Associated morphology Hypoplasia false Inferred relationship Some 5
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Finding site Corpus callosum structure false Inferred relationship Some 5
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Associated morphology Fibroepithelial polyp false Inferred relationship Some 4
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Finding site Skin structure of preauricular region false Inferred relationship Some 4
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a Benign neoplasm of skin of face true Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a Congenital anomaly of skin false Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a Congenital anomaly of face (disorder) false Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Finding site Corpus callosum structure true Inferred relationship Some 2
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 2
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Finding site Brain structure false Inferred relationship Some 1
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 1
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Interprets Birth head circumference true Inferred relationship Some 4
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 4
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Finding site Head structure true Inferred relationship Some 1
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a Congenital microcephaly (disorder) true Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 5
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 5
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 6
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 6
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a Disorder involving the integument of fetus OR newborn true Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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