722062004: Oculotrichodysplasia (disorder)

\Genetic disorder of nail\Oculotrichodysplasia

\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\...

\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Oculotrichodysplasia

\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Oculotrichodysplasia

\Finding of head and neck region\Head finding\...

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3330430011 Oculotrichodysplasia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3330431010 Oculotrichodysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

3330432015 Cecatto de Lima Pinheiro syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculotrichodysplasia	Is a	Retinitis pigmentosa	false	Inferred relationship	Existential restriction modifier
Oculotrichodysplasia	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Existential restriction modifier
Oculotrichodysplasia	Is a	Ectodermal dysplasia with hair-tooth-nail defects	true	Inferred relationship	Existential restriction modifier
Oculotrichodysplasia	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
Oculotrichodysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Oculotrichodysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Oculotrichodysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	5
Oculotrichodysplasia	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Oculotrichodysplasia	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Oculotrichodysplasia	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier	4
Oculotrichodysplasia	Finding site	Retinal structure	false	Inferred relationship	Existential restriction modifier	4
Oculotrichodysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	5
Oculotrichodysplasia	Finding site	Ectoderm structure	false	Inferred relationship	Existential restriction modifier	5
Oculotrichodysplasia	Is a	Autosomal recessive retinitis pigmentosa	true	Inferred relationship	Existential restriction modifier
Oculotrichodysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Oculotrichodysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Oculotrichodysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Oculotrichodysplasia	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	1
Oculotrichodysplasia	Finding site	Retinal structure	true	Inferred relationship	Existential restriction modifier	1
Oculotrichodysplasia	Is a	Congenital anomaly of retina	true	Inferred relationship	Existential restriction modifier
Oculotrichodysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Oculotrichodysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Oculotrichodysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Oculotrichodysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Oculotrichodysplasia	Finding site	Ectoderm structure	true	Inferred relationship	Existential restriction modifier	2
Oculotrichodysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Oculotrichodysplasia	Finding site	Hair structure	true	Inferred relationship	Existential restriction modifier	5
Oculotrichodysplasia	Is a	Digestive system hereditary disorder	false	Inferred relationship	Existential restriction modifier
Oculotrichodysplasia	Finding site	Tooth structure	true	Inferred relationship	Existential restriction modifier	4
Oculotrichodysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	5
Oculotrichodysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Oculotrichodysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	4
Oculotrichodysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	5
Oculotrichodysplasia	Finding site	Nail unit structure	true	Inferred relationship	Existential restriction modifier	3
Oculotrichodysplasia	Is a	Genetic disorder of nail	true	Inferred relationship	Existential restriction modifier
Oculotrichodysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Oculotrichodysplasia	Is a	Hereditary disorder of tooth	true	Inferred relationship	Existential restriction modifier

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
3330430011	Oculotrichodysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3330431010	Oculotrichodysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3330432015	Cecatto de Lima Pinheiro syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module