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1208720000: Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4970620017 7q36.3 microduplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4970621018 Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4970622013 Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399858017 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399859013 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4970620017 7q36.3 microduplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4970621018 Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4970622013 Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4970623015 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399858017 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399859013 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3387221001000115 Corpus callosum-Agenesie-Makrozephalie-Hypertelorismus-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3387221001000115 Corpus callosum-Agenesie-Makrozephalie-Hypertelorismus-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
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Is a Congenital macrocephaly true Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Is a Agenesis of corpus callosum true Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Interprets Head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 6
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 6
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Finding site Head structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Associated morphology Enlargement (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Finding site Entire corpus callosum true Inferred relationship Existential restriction modifier (core metadata concept) 5
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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