763795006: Malan overgrowth syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Malan overgrowth syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Macrocephaly\Congenital macrocephaly\Malan overgrowth syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Malan overgrowth syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Malan overgrowth syndrome
• \Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Malan overgrowth syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Malan overgrowth syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Malan overgrowth syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Malan overgrowth syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Malan overgrowth syndrome
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Macrocephaly\Congenital macrocephaly\Malan overgrowth syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Malan overgrowth syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Malan overgrowth syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Malan overgrowth syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Malan overgrowth syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Malan overgrowth syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Malan overgrowth syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\Malan overgrowth syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Malan overgrowth syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Malan overgrowth syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\Malan overgrowth syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Malan overgrowth syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3644015014	Malan overgrowth syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3644016010	Sotos syndrome 2	en	Synonym	Active	Case sensitive	SNOMED CT core
3644017018	Malan overgrowth syndrome (disorder)	en	Fully specified name	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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