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722451006: Gomez Lopez Hernandez syndrome (disorder)


Status: current, Primitive. 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 Case sensitive SNOMED CT core
3332192015 Gomez Lopez Hernandez syndrome en Synonym Active Case sensitive SNOMED CT core
3332193013 Cerebellotrigeminal dermal dysplasia syndrome en Synonym Active Case insensitive SNOMED CT core
3332195018 Syndrome that may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. 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 Case sensitive SNOMED CT core
3332196017 Syndrome that may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anaesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Gomez Lopez Hernandez syndrome Occurrence Congenital true Inferred relationship Some 3
Gomez Lopez Hernandez syndrome Occurrence Congenital true Inferred relationship Some 2
Gomez Lopez Hernandez syndrome Pathological process Pathological developmental process false Inferred relationship Some 3
Gomez Lopez Hernandez syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Gomez Lopez Hernandez syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 3
Gomez Lopez Hernandez syndrome Occurrence Congenital true Inferred relationship Some 1
Gomez Lopez Hernandez syndrome Finding site Skin structure false Inferred relationship Some 3
Gomez Lopez Hernandez syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Gomez Lopez Hernandez syndrome Finding site Hair structure true Inferred relationship Some 1
Gomez Lopez Hernandez syndrome Associated morphology Aplasia true Inferred relationship Some 2
Gomez Lopez Hernandez syndrome Associated morphology Congenital absence false Inferred relationship Some 1
Gomez Lopez Hernandez syndrome Finding site Cerebellar vermis structure true Inferred relationship Some 2
Gomez Lopez Hernandez syndrome Associated morphology Absence true Inferred relationship Some 1
Gomez Lopez Hernandez syndrome Finding site Structure of nervous system true Inferred relationship Some 3
Gomez Lopez Hernandez syndrome Associated morphology Neoplasm true Inferred relationship Some 3
Gomez Lopez Hernandez syndrome Associated morphology Neoplasm true Inferred relationship Some 4
Gomez Lopez Hernandez syndrome Finding site Skin structure true Inferred relationship Some 4
Gomez Lopez Hernandez syndrome Is a Congenital alopecia true Inferred relationship Some
Gomez Lopez Hernandez syndrome Is a Neurocutaneous syndrome true Inferred relationship Some
Gomez Lopez Hernandez syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Gomez Lopez Hernandez syndrome Is a Rhombencephalosynapsis true Inferred relationship Some
Gomez Lopez Hernandez syndrome Occurrence Congenital true Inferred relationship Some 4
Gomez Lopez Hernandez syndrome Occurrence Congenital false Inferred relationship Some 5
Gomez Lopez Hernandez syndrome Occurrence Congenital false Inferred relationship Some 6
Gomez Lopez Hernandez syndrome Associated morphology Congenital absence false Inferred relationship Some 6
Gomez Lopez Hernandez syndrome Finding site Hair structure false Inferred relationship Some 6
Gomez Lopez Hernandez syndrome Associated morphology Aplasia false Inferred relationship Some 4
Gomez Lopez Hernandez syndrome Finding site Cerebellar vermis structure false Inferred relationship Some 4
Gomez Lopez Hernandez syndrome Associated morphology Developmental abnormality false Inferred relationship Some 5
Gomez Lopez Hernandez syndrome Finding site Skin structure false Inferred relationship Some 5

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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