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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
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 Only initial character case insensitive (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
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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (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
3416631001000113 Gómez-López-Hernández-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6295961000241119 syndrome de craniosynostose, alopécie et ventricule cérébral anormal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6295971000241110 syndrome de Gómez-López-Hernández fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6295961000241119 syndrome de craniosynostose, alopécie et ventricule cérébral anormal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6295971000241110 syndrome de Gómez-López-Hernández fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3416631001000113 Gómez-López-Hernández-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
Gomez Lopez Hernandez syndrome (disorder) Is a Congenital alopecia true Inferred relationship Existential restriction modifier (core metadata concept)
Gomez Lopez Hernandez syndrome (disorder) Is a Neurocutaneous syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Gomez Lopez Hernandez syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Gomez Lopez Hernandez syndrome (disorder) Is a Rhombencephalosynapsis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Gomez Lopez Hernandez syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Gomez Lopez Hernandez syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Gomez Lopez Hernandez syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Gomez Lopez Hernandez syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Gomez Lopez Hernandez syndrome (disorder) Finding site Hair structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Gomez Lopez Hernandez syndrome (disorder) Associated morphology Aplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Gomez Lopez Hernandez syndrome (disorder) Finding site Cerebellar vermis structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Gomez Lopez Hernandez syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Gomez Lopez Hernandez syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Gomez Lopez Hernandez syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Gomez Lopez Hernandez syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Gomez Lopez Hernandez syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Gomez Lopez Hernandez syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Gomez Lopez Hernandez syndrome (disorder) Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Gomez Lopez Hernandez syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Gomez Lopez Hernandez syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Gomez Lopez Hernandez syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Gomez Lopez Hernandez syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Gomez Lopez Hernandez syndrome (disorder) Associated morphology Aplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Gomez Lopez Hernandez syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Gomez Lopez Hernandez syndrome (disorder) Finding site Cerebellar vermis structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Gomez Lopez Hernandez syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Gomez Lopez Hernandez syndrome (disorder) Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Gomez Lopez Hernandez syndrome (disorder) Associated morphology Neoplasm true Inferred relationship Existential restriction modifier (core metadata concept) 3
Gomez Lopez Hernandez syndrome (disorder) Associated morphology Neoplasm true Inferred relationship Existential restriction modifier (core metadata concept) 4
Gomez Lopez Hernandez syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 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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