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1237475006: Cerebellar-facial-dental syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5099392013 Cerebellar-facial-dental syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5099393015 Cerebellofaciodental syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5099394014 Cerebellar-facial-dental syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5099410019 A rare autosomal recessive multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies. The disorder is due to biallelic variants in the BRF1 (14q32.33) gene; the pathogenic variants reported are missense variants, with only one frameshift mutation identified. All variants affect protein residues located within the cyclin 2 protein domain. 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
Cerebellar-facial-dental syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Some
Cerebellar-facial-dental syndrome (disorder) Is a Congenital cerebellar hypoplasia true Inferred relationship Some
Cerebellar-facial-dental syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Cerebellar-facial-dental syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Cerebellar-facial-dental syndrome (disorder) Is a Congenital anomaly of tooth (disorder) true Inferred relationship Some
Cerebellar-facial-dental syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Cerebellar-facial-dental syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Cerebellar-facial-dental syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Cerebellar-facial-dental syndrome (disorder) Finding site Tooth structure true Inferred relationship Some 1
Cerebellar-facial-dental syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Cerebellar-facial-dental syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Cerebellar-facial-dental syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Cerebellar-facial-dental syndrome (disorder) Finding site Face structure true Inferred relationship Some 2
Cerebellar-facial-dental syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Cerebellar-facial-dental syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Cerebellar-facial-dental syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Cerebellar-facial-dental syndrome (disorder) Finding site Cerebellar structure true Inferred relationship Some 3
Cerebellar-facial-dental syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 3
Cerebellar-facial-dental syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Cerebellar-facial-dental syndrome (disorder) Is a Congenital microcephaly (disorder) true Inferred relationship Some
Cerebellar-facial-dental syndrome (disorder) Interprets Birth head circumference true Inferred relationship Some 5
Cerebellar-facial-dental syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 5
Cerebellar-facial-dental syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Cerebellar-facial-dental syndrome (disorder) Finding site Head structure true Inferred relationship Some 4
Cerebellar-facial-dental syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 4
Cerebellar-facial-dental syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Cerebellar-facial-dental syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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US English

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