733604003: Microcephalus, lymphedema, chorioretinopathy syndrome (disorder)

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

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus, lymphedema, chorioretinopathy syndrome

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

\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus, lymphedema, chorioretinopathy syndrome

\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, lymphedema, chorioretinopathy syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalus, lymphedema, chorioretinopathy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Microcephalus, lymphedema, chorioretinopathy syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, lymphedema, chorioretinopathy syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Microcephalus, lymphedema, chorioretinopathy syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, lymphedema, chorioretinopathy syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephalus, lymphedema, chorioretinopathy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Microcephalus, lymphedema, chorioretinopathy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, lymphedema, chorioretinopathy 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

3500036015 Microcephalus, lymphedema, chorioretinopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3500037012 Microcephalus, lymphedema, chorioretinopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3500040012 MLCRD (microcephaly with or without chorioretinopathy, lymphoedema or intellectual disability) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3500041011 MLCRD (microcephaly with or without chorioretinopathy, lymphedema or intellectual disability) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3500042016 Microcephalus, lymphoedema, chorioretinopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3500038019 A rare autosomal dominant condition characterised by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphoedema of the lower limbs and mild to moderate intellectual disability. The exact prevalence is not known but the disorder is thought to be rare. The microcephaly is primary, and the severity is variable even within families. Mild to moderate learning difficulties are common. A characteristic facial phenotype including up slanting palpebral fissures, broad nose with rounded tip, anteverted nares, long philtrum with thin upper lip, and prominent chin and ears is well recognised. There is likely to be genetic heterogeneity. However, a significant proportion of cases are caused by mutations in the kinesin family member 11 (KIF11) gene (10q24.1). Inheritance is autosomal dominant with variable expression and reduced penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3500039010 A rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs and mild to moderate intellectual disability. The exact prevalence is not known but the disorder is thought to be rare. The microcephaly is primary, and the severity is variable even within families. Mild to moderate learning difficulties are common. A characteristic facial phenotype including up slanting palpebral fissures, broad nose with rounded tip, anteverted nares, long philtrum with thin upper lip, and prominent chin and ears is well recognized. There is likely to be genetic heterogeneity. However, a significant proportion of cases are caused by mutations in the kinesin family member 11 (KIF11) gene (10q24.1). Inheritance is autosomal dominant with variable expression and reduced penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4013201000052114 syndrom med mikrocefali, lymfödem och korioretinopati sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephalus, lymphedema, chorioretinopathy syndrome	Is a	mikrocefali	false	Inferred relationship	Some
Microcephalus, lymphedema, chorioretinopathy syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Microcephalus, lymphedema, chorioretinopathy syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Microcephalus, lymphedema, chorioretinopathy syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Microcephalus, lymphedema, chorioretinopathy syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Microcephalus, lymphedema, chorioretinopathy syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Microcephalus, lymphedema, chorioretinopathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Microcephalus, lymphedema, chorioretinopathy syndrome	Finding site	Brain structure	false	Inferred relationship	Some	1
Microcephalus, lymphedema, chorioretinopathy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Microcephalus, lymphedema, chorioretinopathy syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Microcephalus, lymphedema, chorioretinopathy syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Microcephalus, lymphedema, chorioretinopathy syndrome	Finding site	Head structure	true	Inferred relationship	Some	1
Microcephalus, lymphedema, chorioretinopathy syndrome	Interprets	Birth head circumference	true	Inferred relationship	Some	2
Microcephalus, lymphedema, chorioretinopathy syndrome	Is a	Congenital microcephaly (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
3500036015	Microcephalus, lymphedema, chorioretinopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3500037012	Microcephalus, lymphedema, chorioretinopathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3500040012	MLCRD (microcephaly with or without chorioretinopathy, lymphoedema or intellectual disability) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3500041011	MLCRD (microcephaly with or without chorioretinopathy, lymphedema or intellectual disability) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3500042016	Microcephalus, lymphoedema, chorioretinopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3500038019	A rare autosomal dominant condition characterised by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphoedema of the lower limbs and mild to moderate intellectual disability. The exact prevalence is not known but the disorder is thought to be rare. The microcephaly is primary, and the severity is variable even within families. Mild to moderate learning difficulties are common. A characteristic facial phenotype including up slanting palpebral fissures, broad nose with rounded tip, anteverted nares, long philtrum with thin upper lip, and prominent chin and ears is well recognised. There is likely to be genetic heterogeneity. However, a significant proportion of cases are caused by mutations in the kinesin family member 11 (KIF11) gene (10q24.1). Inheritance is autosomal dominant with variable expression and reduced penetrance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3500039010	A rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs and mild to moderate intellectual disability. The exact prevalence is not known but the disorder is thought to be rare. The microcephaly is primary, and the severity is variable even within families. Mild to moderate learning difficulties are common. A characteristic facial phenotype including up slanting palpebral fissures, broad nose with rounded tip, anteverted nares, long philtrum with thin upper lip, and prominent chin and ears is well recognized. There is likely to be genetic heterogeneity. However, a significant proportion of cases are caused by mutations in the kinesin family member 11 (KIF11) gene (10q24.1). Inheritance is autosomal dominant with variable expression and reduced penetrance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4013201000052114	syndrom med mikrocefali, lymfödem och korioretinopati	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)