722062004: Oculotrichodysplasia (disorder)

\Genetic disorder of nail (disorder)\Oculotrichodysplasia (disorder)

\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 (disorder)

\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Oculotrichodysplasia (disorder)

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Oculotrichodysplasia (disorder)
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with hair-tooth-nail defects\Oculotrichodysplasia (disorder)
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Oculotrichodysplasia (disorder)
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\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 (disorder)
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Oculotrichodysplasia (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Oculotrichodysplasia (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Oculotrichodysplasia (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with hair-tooth-nail defects\Oculotrichodysplasia (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Oculotrichodysplasia (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with hair-tooth-nail defects\Oculotrichodysplasia (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Oculotrichodysplasia (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Oculotrichodysplasia (disorder)

\Finding of limb structure\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Oculotrichodysplasia (disorder)
\Finding of limb structure\Nail finding\Disorder of nail (disorder)\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 (disorder)
\Finding of limb structure\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Oculotrichodysplasia (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Oculotrichodysplasia (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Oculotrichodysplasia (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Oculotrichodysplasia (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\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 (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Oculotrichodysplasia (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Oculotrichodysplasia (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Oculotrichodysplasia (disorder)

\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Oculotrichodysplasia (disorder)
\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Congenital anomaly of retina\Oculotrichodysplasia (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Oculotrichodysplasia (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Oculotrichodysplasia (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Oculotrichodysplasia (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Oculotrichodysplasia (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Oculotrichodysplasia (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Oculotrichodysplasia (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Oculotrichodysplasia (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Oculotrichodysplasia (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Oculotrichodysplasia (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Oculotrichodysplasia (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Oculotrichodysplasia (disorder)
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Oculotrichodysplasia (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

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

3330431010 Oculotrichodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330432015 Cecatto de Lima Pinheiro syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402811014 A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402812019 A rare ectodermal dysplasia syndrome characterised by bilateral retinitis pigmentosa, trichodysplasia (generalised hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
3330430011	Oculotrichodysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330431010	Oculotrichodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330432015	Cecatto de Lima Pinheiro syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402811014	A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402812019	A rare ectodermal dysplasia syndrome characterised by bilateral retinitis pigmentosa, trichodysplasia (generalised hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core