778023004: Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (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\Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)
• \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\Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)
• \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\Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)
• \Disease\Disorder of immune function (disorder)\Autoimmune disease\Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)
• \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\Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)
• \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\Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3737246012	Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3737247015	Syndromic multisystem autoimmune disease due to ITCH deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3737248013	Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3737264017	A rare genetic systemic autoimmune disease with characteristics of failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognathia), hepato and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland. Caused by homozygous mutation in the ITCH gene on chromosome 20q11.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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