787093004: Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like 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\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like 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\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like 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\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like 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\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like 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\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
• \Disease\Developmental disorder (disorder)\Developmental delay\Global developmental delay\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3773931019	Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3773932014	Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3773933016	Developmental delay, facial dysmorphism syndrome due to MED13L deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3773930018	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of varying degrees of intellectual disability, global developmental delay (notably with severe speech and language impairment), muscular hypotonia, and facial dysmorphism (such as broad forehead, bitemporal narrowing, upslanting palpebral fissures, low-set ears, flat nasal bridge, bulbous nose and variably macroglossia). Highly variable additional features include cardiac defects (including persistent foramen ovale, ventricular septal defects, tetralogy of Fallot), coordination problems, seizures, abnormal growth parameters (including microcephaly, low birth and postnatal weight) and brain morphology anomalies (such as ventriculomegaly and myelination defects).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3773931019	Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3773932014	Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3773933016	Developmental delay, facial dysmorphism syndrome due to MED13L deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3773930018	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of varying degrees of intellectual disability, global developmental delay (notably with severe speech and language impairment), muscular hypotonia, and facial dysmorphism (such as broad forehead, bitemporal narrowing, upslanting palpebral fissures, low-set ears, flat nasal bridge, bulbous nose and variably macroglossia). Highly variable additional features include cardiac defects (including persistent foramen ovale, ventricular septal defects, tetralogy of Fallot), coordination problems, seizures, abnormal growth parameters (including microcephaly, low birth and postnatal weight) and brain morphology anomalies (such as ventriculomegaly and myelination defects).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424151001000112	Entwicklungsverzögerung-Gesichtsdysmorphien-Syndrom durch MED13L-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6076111000241113	syndrome de déficience intellectuelle associé à MED13L (mediator complex subunit 13L)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6076121000241118	syndrome de retard de développement et dysmorphie faciale par déficit en 'mediator complex subunit 13L'	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6076111000241113	syndrome de déficience intellectuelle associé à MED13L (mediator complex subunit 13L)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6076121000241118	syndrome de retard de développement et dysmorphie faciale par déficit en 'mediator complex subunit 13L'	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3424151001000112	Entwicklungsverzögerung-Gesichtsdysmorphien-Syndrom durch MED13L-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

Back to Start