17827007: syndroom van gingivafibromatose, hypopigmentatie, microftalmie, oligofrenie en athetose (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Cross syndrome
\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Cross syndrome
\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Cross syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Cross syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Cross syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Cross syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Cross syndrome

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Cross syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Cross syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Cross syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Cross syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cross syndrome	Is a	Congenital anomaly of respiratory system	false	Inferred relationship	Some
Cross syndrome	Is a	Digestive system hereditary disorder (disorder)	false	Inferred relationship	Some
Cross syndrome	Is a	Tyrosinase-positive oculocutaneous albinism	false	Inferred relationship	Some
Cross syndrome	Is a	Microphthalmos	false	Inferred relationship	Some
Cross syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Cross syndrome	Is a	Hereditary disorder of the visual system (disorder)	false	Inferred relationship	Some
Cross syndrome	Is a	Congenital anomaly of digestive system	false	Inferred relationship	Some
Cross syndrome	Is a	Gingival fibromatosis	false	Inferred relationship	Some
Cross syndrome	Is a	Congenital anomaly of face	false	Inferred relationship	Some
Cross syndrome	Associated morphology	Congenital deficiency	false	Inferred relationship	Some
Cross syndrome	Finding site	Structure of skin region	false	Inferred relationship	Some	2
Cross syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
Cross syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Cross syndrome	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	2
Cross syndrome	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	2
Cross syndrome	Associated morphology	Fibromatosis	false	Inferred relationship	Some	1
Cross syndrome	Associated morphology	Fibromatosis	false	Inferred relationship	Some	1
Cross syndrome	Finding site	Gingival structure	false	Inferred relationship	Some	4
Cross syndrome	Finding site	Periodontal tissues structure	false	Inferred relationship	Some
Cross syndrome	Associated morphology	Fibroepithelial hyperplasia	false	Inferred relationship	Some	1
Cross syndrome	Finding site	Jaw region structure	false	Inferred relationship	Some
Cross syndrome	Finding site	Eye structure	false	Inferred relationship	Some	3
Cross syndrome	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	3
Cross syndrome	Finding site	Gingival structure	false	Inferred relationship	Some	5
Cross syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Cross syndrome	Finding site	Gingival structure	false	Inferred relationship	Some	4
Cross syndrome	Is a	Congenital anomaly of face	false	Inferred relationship	Some
Cross syndrome	Finding site	Gingival structure	false	Inferred relationship	Some	1
Cross syndrome	Finding site	Gingival structure	false	Inferred relationship	Some	1
Cross syndrome	Finding site	Gingival structure	false	Inferred relationship	Some	1
Cross syndrome	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	3
Cross syndrome	Finding site	Eye structure	false	Inferred relationship	Some	4
Cross syndrome	Finding site	Gingival structure	false	Inferred relationship	Some	1
Cross syndrome	Finding site	Gingival structure	false	Inferred relationship	Some	1
Cross syndrome	Finding site	Gingival structure	false	Inferred relationship	Some	2
Cross syndrome	Finding site	Eye structure	false	Inferred relationship	Some	3
Cross syndrome	Finding site	Eye structure	true	Inferred relationship	Some	4
Cross syndrome	Finding site	Skin structure	true	Inferred relationship	Some	3
Cross syndrome	Due to	Disorder of tyrosine metabolism	false	Inferred relationship	Some
Cross syndrome	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	3
Cross syndrome	Associated morphology	Hypertrophy (morphologic abnormality)	false	Inferred relationship	Some	1
Cross syndrome	Finding site	Eye structure	false	Inferred relationship	Some	3
Cross syndrome	Finding site	Eye structure	false	Inferred relationship	Some	1
Cross syndrome	Finding site	Eye structure	false	Inferred relationship	Some	3
Cross syndrome	Finding site	Eye structure	false	Inferred relationship	Some	1
Cross syndrome	Finding site	Eye structure	false	Inferred relationship	Some	3
Cross syndrome	Finding site	Eye structure	false	Inferred relationship	Some	1
Cross syndrome	Finding site	Eye structure	false	Inferred relationship	Some	2
Cross syndrome	Finding site	Eye structure	false	Inferred relationship	Some	3
Cross syndrome	Finding site	Gingival structure	false	Inferred relationship	Some	1
Cross syndrome	Associated morphology	Fibromatosis	false	Inferred relationship	Some	1
Cross syndrome	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	4
Cross syndrome	Finding site	geheel oog (lichaamsstructuur)	false	Inferred relationship	Some	4
Cross syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Cross syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Cross syndrome	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	2
Cross syndrome	Finding site	geheel oog (lichaamsstructuur)	false	Inferred relationship	Some	2
Cross syndrome	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	5
Cross syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Cross syndrome	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	6
Cross syndrome	Finding site	Skin structure	false	Inferred relationship	Some	6
Cross syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Cross syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Cross syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Cross syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Cross syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Cross syndrome	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	4
Cross syndrome	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	3
Cross syndrome	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	4
Cross syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Cross syndrome	Is a	Oculocutaneous albinism	true	Inferred relationship	Some
Cross syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Cross syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	1
Cross syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	1
Cross syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Cross syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
30111010	Cross syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
30112015	Oculocerebral-hypopigmentation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
30113013	Hypopigmentation and microphthalmia	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
30114019	Gingival fibromatosis, hypopigmentation, microphthalmia, oligophrenia and athetosis	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
30115018	Gingival fibromatosis, hypopigmentation, microphthalmia, oligophrenia AND athetosis	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
30116017	Hypopigmentation AND microphthalmia	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
745175018	Cross syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3793253016	Oculocerebral hypopigmentation syndrome Cross type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3793254010	Kramer syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6948611000146112	syndroom van gingivafibromatose, hypopigmentatie, microftalmie, oligofrenie en athetose (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6948621000146119	syndroom van gingivafibromatose, hypopigmentatie, microftalmie, oligofrenie en athetose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)