733046006: syndroom van hemifaciale hyperplasie en strabismus (aandoening)

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

\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Hemifacial hyperplasia\Hemifacial hyperplasia strabismus syndrome
\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\Hemifacial hyperplasia strabismus syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Hemifacial hyperplasia\Hemifacial hyperplasia strabismus syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Hemifacial hyperplasia strabismus syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Hemifacial hyperplasia strabismus syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome

\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hemifacial hyperplasia strabismus syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye movements\Strabismus\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hemifacial hyperplasia strabismus syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hemifacial hyperplasia strabismus syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Strabismus\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Hemifacial hyperplasia\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Hemifacial hyperplasia strabismus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Hemifacial hyperplasia strabismus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Hemifacial hyperplasia strabismus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498631019 Hemifacial hyperplasia strabismus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498632014 Bencze syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3498633016 Hemifacial hyperplasia strabismus syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6113921000146110 syndroom van Bencze nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6724321000146114 syndroom van hemifaciale hyperplasie en strabisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12045691000146117 syndroom van hemifaciale hyperplasie en strabismus nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12045701000146117 syndroom van hemifaciale hyperplasie en strabismus (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12045711000146115 syndroom van hemifaciale hyperplasie en scheelzien nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3499947014 A malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs. The syndrome has characteristics of mild facial asymmetry with unaffected neurocranium and eyeballs, along with esotropia, amblyopia and/or convergent strabismus and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979. 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
Hemifacial hyperplasia strabismus syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hemifacial hyperplasia strabismus syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Hemifacial hyperplasia strabismus syndrome	Is a	Congenital strabismus	true	Inferred relationship	Some
Hemifacial hyperplasia strabismus syndrome	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Hemifacial hyperplasia strabismus syndrome	Is a	Hemifacial hyperplasia	true	Inferred relationship	Some
Hemifacial hyperplasia strabismus syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Hemifacial hyperplasia strabismus syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Hemifacial hyperplasia strabismus syndrome	Finding site	Eye region structure (body structure)	false	Inferred relationship	Some	3
Hemifacial hyperplasia strabismus syndrome	Associated morphology	congenitale hyperplasie	false	Inferred relationship	Some	4
Hemifacial hyperplasia strabismus syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Hemifacial hyperplasia strabismus syndrome	Finding site	Face structure	false	Inferred relationship	Some	4
Hemifacial hyperplasia strabismus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Hemifacial hyperplasia strabismus syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Hemifacial hyperplasia strabismus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Hemifacial hyperplasia strabismus syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hemifacial hyperplasia strabismus syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Hemifacial hyperplasia strabismus syndrome	Finding site	Eye region structure (body structure)	true	Inferred relationship	Some	2
Hemifacial hyperplasia strabismus syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Hemifacial hyperplasia strabismus syndrome	Associated morphology	Hyperplasia	true	Inferred relationship	Some	1
Hemifacial hyperplasia strabismus syndrome	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
3498631019	Hemifacial hyperplasia strabismus syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498632014	Bencze syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498633016	Hemifacial hyperplasia strabismus syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6113921000146110	syndroom van Bencze	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6724321000146114	syndroom van hemifaciale hyperplasie en strabisme	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12045691000146117	syndroom van hemifaciale hyperplasie en strabismus	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12045701000146117	syndroom van hemifaciale hyperplasie en strabismus (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12045711000146115	syndroom van hemifaciale hyperplasie en scheelzien	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3499947014	A malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs. The syndrome has characteristics of mild facial asymmetry with unaffected neurocranium and eyeballs, along with esotropia, amblyopia and/or convergent strabismus and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core