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722451006: Gomez Lopez Hernandez 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
3332191010 Gomez Lopez Hernandez syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332192015 Gomez Lopez Hernandez syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332193013 Cerebellotrigeminal dermal dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402940013 A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402941012 A rare neurocutaneous syndrome characterised by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anaesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported. 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
Gomez Lopez Hernandez syndrome (disorder) Is a Congenital alopecia true Inferred relationship Some
Gomez Lopez Hernandez syndrome (disorder) Is a Neurocutaneous syndrome true Inferred relationship Some
Gomez Lopez Hernandez syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Gomez Lopez Hernandez syndrome (disorder) Is a Rhombencephalosynapsis true Inferred relationship Some
Gomez Lopez Hernandez syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Gomez Lopez Hernandez syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Gomez Lopez Hernandez syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Gomez Lopez Hernandez syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 6
Gomez Lopez Hernandez syndrome (disorder) Finding site Hair structure (body structure) false Inferred relationship Some 6
Gomez Lopez Hernandez syndrome (disorder) Associated morphology Aplasia false Inferred relationship Some 4
Gomez Lopez Hernandez syndrome (disorder) Finding site Cerebellar vermis structure false Inferred relationship Some 4
Gomez Lopez Hernandez syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 5
Gomez Lopez Hernandez syndrome (disorder) Finding site Skin structure false Inferred relationship Some 5
Gomez Lopez Hernandez syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Gomez Lopez Hernandez syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Gomez Lopez Hernandez syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Gomez Lopez Hernandez syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Gomez Lopez Hernandez syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 3
Gomez Lopez Hernandez syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Gomez Lopez Hernandez syndrome (disorder) Finding site Skin structure false Inferred relationship Some 3
Gomez Lopez Hernandez syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Gomez Lopez Hernandez syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 1
Gomez Lopez Hernandez syndrome (disorder) Associated morphology Aplasia true Inferred relationship Some 2
Gomez Lopez Hernandez syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 1
Gomez Lopez Hernandez syndrome (disorder) Finding site Cerebellar vermis structure true Inferred relationship Some 2
Gomez Lopez Hernandez syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 1
Gomez Lopez Hernandez syndrome (disorder) Finding site Structure of nervous system (body structure) true Inferred relationship Some 3
Gomez Lopez Hernandez syndrome (disorder) Associated morphology Neoplasm true Inferred relationship Some 3
Gomez Lopez Hernandez syndrome (disorder) Associated morphology Neoplasm true Inferred relationship Some 4
Gomez Lopez Hernandez syndrome (disorder) Finding site Skin structure true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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