1388884003: Imagawa Matsumoto syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \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\Imagawa Matsumoto 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\Imagawa Matsumoto 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\Imagawa Matsumoto syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Imagawa Matsumoto syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Imagawa Matsumoto syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Imagawa Matsumoto syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Imagawa Matsumoto syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Imagawa Matsumoto syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Imagawa Matsumoto syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Imagawa Matsumoto syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Imagawa Matsumoto syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Imagawa Matsumoto syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Imagawa Matsumoto syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Imagawa Matsumoto syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2026. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
6156353019	SUZ12 gene related overgrowth syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6156354013	Imagawa Matsumoto syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6156355014	Imagawa Matsumoto syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6156356010	A rare PRC-2 complex-related overgrowth spectrum disorder characterised by generalised pre and post-natal overgrowth, dysmorphic features (including macrocephaly, prominent forehead, round face, hypertelorism, down-slanting palpebral fissures, and low and broad nasal bridge), intellectual disability, scoliosis, and excessive loose skin. While these clinical features are shared with other diseases in the spectrum, they are less prevalent. Retrognathia, hoarse/low-pitched cry and a low nasal bridge are usually absent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6156357018	A rare PRC-2 complex-related overgrowth spectrum disorder characterized by generalized pre and post-natal overgrowth, dysmorphic features (including macrocephaly, prominent forehead, round face, hypertelorism, down-slanting palpebral fissures, and low and broad nasal bridge), intellectual disability, scoliosis, and excessive loose skin. While these clinical features are shared with other diseases in the spectrum, they are less prevalent. Retrognathia, hoarse/low-pitched cry and a low nasal bridge are usually absent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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