763795006: Malan overgrowth syndrome (disorder)

\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\Malan overgrowth syndrome

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Malan overgrowth syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\Malan overgrowth syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Malan overgrowth syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Malan overgrowth syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Malan overgrowth syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Malan overgrowth syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Malan overgrowth syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Malan overgrowth syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\Malan overgrowth syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Malan overgrowth syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Malan overgrowth syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Malan overgrowth syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Malan overgrowth 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\Malan overgrowth syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Malan overgrowth syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Malan overgrowth syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Malan overgrowth syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Malan overgrowth syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Malan overgrowth syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Malan overgrowth 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

3644015014 Malan overgrowth syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3644016010 Sotos syndrome 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3644017018 Malan overgrowth syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3644018011 A multiple congenital anomalies syndrome characterised by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behaviour, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhoea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies. The disease is caused by heterozygous mutation in the NFIX gene on chromosome 19p13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3644019015 A multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies. The disease is caused by heterozygous mutation in the NFIX gene on chromosome 19p13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

992451000172110 syndrome de croissance excessive de Malan fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Malan overgrowth syndrome	Is a	macrocéphalie	false	Inferred relationship	Some
Malan overgrowth syndrome	Is a	Hereditary disease	false	Inferred relationship	Some
Malan overgrowth syndrome	Is a	Multiple malformation syndrome with early overgrowth	true	Inferred relationship	Some
Malan overgrowth syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Malan overgrowth syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Malan overgrowth syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Malan overgrowth syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Malan overgrowth syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Malan overgrowth syndrome	Associated morphology	Congenital enlargement	false	Inferred relationship	Some	1
Malan overgrowth syndrome	Finding site	Entire head	false	Inferred relationship	Some	1
Malan overgrowth syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Malan overgrowth syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Malan overgrowth syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Malan overgrowth syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Malan overgrowth syndrome	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	1
Malan overgrowth syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Malan overgrowth syndrome	Finding site	Head structure	true	Inferred relationship	Some	1
Malan overgrowth syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	3
Malan overgrowth syndrome	Is a	Congenital macrocephaly (disorder)	true	Inferred relationship	Some
Malan overgrowth syndrome	Interprets	Head circumference	true	Inferred relationship	Some	3
Malan overgrowth syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
Malan overgrowth syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Malan overgrowth syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
Malan overgrowth 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
3644015014	Malan overgrowth syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3644016010	Sotos syndrome 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3644017018	Malan overgrowth syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3644018011	A multiple congenital anomalies syndrome characterised by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behaviour, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhoea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies. The disease is caused by heterozygous mutation in the NFIX gene on chromosome 19p13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3644019015	A multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies. The disease is caused by heterozygous mutation in the NFIX gene on chromosome 19p13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
992451000172110	syndrome de croissance excessive de Malan	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module