771181009: hypertrichosis cubiti (aandoening)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Hair finding\Disorder of hair\...

\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)

\Congenital anomaly of hair\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypertrichosis cubiti (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypertrichosis cubiti (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypertrichosis cubiti (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hypertrichosis cubiti (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypertrichosis cubiti (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypertrichosis cubiti (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypertrichosis cubiti (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hypertrichosis cubiti (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hypertrichosis cubiti (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hypertrichosis cubiti (disorder)
\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Hypertrichosis cubiti (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypertrichosis cubiti (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Ectodermal dysplasia\Hypertrichosis cubiti (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Hypertrichosis cubiti (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypertrichosis cubiti (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hypertrichosis cubiti (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hypertrichosis cubiti (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypertrichosis cubiti (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypertrichosis cubiti (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypertrichosis cubiti (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Hypertrichosis cubiti (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Ectodermal dysplasia\Hypertrichosis cubiti (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Hypertrichosis cubiti (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypertrichosis cubiti (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Hypertrichosis cubiti (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3704772013 Hypertrichosis cubiti (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3704773015 Hypertrichosis cubiti en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3704774014 Hairy elbows syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3704775010 MacDermot Patton Williams syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6361751000146111 hypertrichosis cubiti nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6361761000146114 hypertrichosis cubiti (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6361771000146115 behaarde-ellebogensyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6361781000146118 syndroom van MacDermot-Patton-Williams nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6361791000146116 MacDermot-Patton-Williams-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3704776011 A rare hair anomaly characterised by symmetrical, congenital or early-onset, bilateral hypertrichosis localised on the extensor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3704777019 A rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrichosis localized on the extensor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated. 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
Hypertrichosis cubiti (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Hypertrichosis cubiti (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Hypertrichosis cubiti (disorder)	Is a	Ectodermal dysplasia	true	Inferred relationship	Some
Hypertrichosis cubiti (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hypertrichosis cubiti (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Hypertrichosis cubiti (disorder)	Is a	Congenital hypertrichosis	true	Inferred relationship	Some
Hypertrichosis cubiti (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	3
Hypertrichosis cubiti (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Hypertrichosis cubiti (disorder)	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
Hypertrichosis cubiti (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Hypertrichosis cubiti (disorder)	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	2
Hypertrichosis cubiti (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	2
Hypertrichosis cubiti (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hypertrichosis cubiti (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Hypertrichosis cubiti (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Hypertrichosis cubiti (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	3
Hypertrichosis cubiti (disorder)	Associated morphology	Growth alteration	false	Inferred relationship	Some	4
Hypertrichosis cubiti (disorder)	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	4
Hypertrichosis cubiti (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Hypertrichosis cubiti (disorder)	Associated morphology	Growth alteration	true	Inferred relationship	Some	2
Hypertrichosis cubiti (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

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
3704772013	Hypertrichosis cubiti (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3704773015	Hypertrichosis cubiti	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3704774014	Hairy elbows syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3704775010	MacDermot Patton Williams syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6361751000146111	hypertrichosis cubiti	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6361761000146114	hypertrichosis cubiti (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6361771000146115	behaarde-ellebogensyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6361781000146118	syndroom van MacDermot-Patton-Williams	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6361791000146116	MacDermot-Patton-Williams-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3704776011	A rare hair anomaly characterised by symmetrical, congenital or early-onset, bilateral hypertrichosis localised on the extensor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3704777019	A rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrichosis localized on the extensor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core