787093004: Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\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)
• \affection de la tête\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)
• \affection de la tête\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\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
• \Disease\affection de la tête\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\affection de la tête\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\trouble mental\troubles mentaux du développement\Intellectual disability\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
• \Disease\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\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
• \Disease\trouble du développement\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\trouble du développement\retard de développement\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

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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