763618001: Wiedemann Steiner syndrome (disorder)

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\Wiedemann Steiner syndrome

\Congenital anomaly of hair\Congenital hypertrichosis\Wiedemann Steiner syndrome

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Wiedemann Steiner syndrome
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Wiedemann Steiner syndrome
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Wiedemann Steiner syndrome

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

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Wiedemann Steiner syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Wiedemann Steiner syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Wiedemann Steiner syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Wiedemann Steiner syndrome
\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\Wiedemann Steiner syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Wiedemann Steiner syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Wiedemann Steiner syndrome
\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\Wiedemann Steiner syndrome
\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\Wiedemann Steiner syndrome
\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\Wiedemann Steiner syndrome

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

\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Wiedemann Steiner syndrome

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Wiedemann Steiner syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Wiedemann Steiner syndrome

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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Wiedemann Steiner syndrome
\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\Wiedemann Steiner syndrome
\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\Wiedemann Steiner syndrome
\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\Wiedemann Steiner syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Wiedemann Steiner syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Wiedemann Steiner syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Wiedemann Steiner syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Wiedemann Steiner syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Wiedemann Steiner syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Wiedemann Steiner syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Wiedemann Steiner syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Wiedemann Steiner syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Wiedemann Steiner syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Wiedemann Steiner syndrome
\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\Wiedemann Steiner syndrome
\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\Wiedemann Steiner syndrome
\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\Wiedemann Steiner syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Wiedemann Steiner syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Wiedemann Steiner syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Wiedemann Steiner syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Wiedemann Steiner syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Wiedemann Steiner syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Wiedemann Steiner syndrome
\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\Wiedemann Steiner syndrome
\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\Wiedemann Steiner syndrome
\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\Wiedemann Steiner syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Wiedemann Steiner syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Wiedemann Steiner syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Wiedemann Steiner syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Wiedemann Steiner syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Wiedemann Steiner syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Wiedemann Steiner syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3643042018 Wiedemann Steiner syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3643043011 Hypertrichosis, short stature, facial dysmorphism, developmental delay syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3643044017 Wiedemann Steiner syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3643045016 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back and seizures. There is evidence the disease is caused by heterozygous mutation in the MLL gene on chromosome 11q23. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

11276041000172114 syndrome d'hypertrichose, petite taille, dysmorphie faciale et retard de développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

11276051000172111 syndrome de Wiedemann-Steiner fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5178901000172112 syndroom van Wiedemann-Steiner nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5178911000172110 syndroom van hypertrichose, kleine gestalte, faciale dysmorfie en ontwikkelingsachterstand nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Wiedemann Steiner syndrome	Is a	Congenital hypertrichosis	true	Inferred relationship	Some
Wiedemann Steiner syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Wiedemann Steiner syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Wiedemann Steiner syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Wiedemann Steiner syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Wiedemann Steiner syndrome	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	4
Wiedemann Steiner syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Wiedemann Steiner syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Wiedemann Steiner syndrome	Finding site	Face structure	false	Inferred relationship	Some	3
Wiedemann Steiner syndrome	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	3
Wiedemann Steiner syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Wiedemann Steiner syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Wiedemann Steiner syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Wiedemann Steiner syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Wiedemann Steiner syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Wiedemann Steiner syndrome	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	2
Wiedemann Steiner syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Wiedemann Steiner syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Wiedemann Steiner syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Wiedemann Steiner syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Wiedemann Steiner syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	3
Wiedemann Steiner syndrome	Associated morphology	Growth alteration	false	Inferred relationship	Some	4
Wiedemann Steiner syndrome	Associated morphology	Growth alteration	true	Inferred relationship	Some	1
Wiedemann Steiner syndrome	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	1
Wiedemann Steiner syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Wiedemann Steiner syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	3
Wiedemann Steiner syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
Wiedemann Steiner syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Wiedemann Steiner syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
Wiedemann Steiner syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5

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
3643042018	Wiedemann Steiner syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643043011	Hypertrichosis, short stature, facial dysmorphism, developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643044017	Wiedemann Steiner syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643045016	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back and seizures. There is evidence the disease is caused by heterozygous mutation in the MLL gene on chromosome 11q23.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
11276041000172114	syndrome d'hypertrichose, petite taille, dysmorphie faciale et retard de développement	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
11276051000172111	syndrome de Wiedemann-Steiner	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5178901000172112	syndroom van Wiedemann-Steiner	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5178911000172110	syndroom van hypertrichose, kleine gestalte, faciale dysmorfie en ontwikkelingsachterstand	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)