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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Developmental delay, facial dysmorphism syndrome due to MED13L deficiency
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Developmental delay, facial dysmorphism syndrome due to MED13L deficiency
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Developmental delay, facial dysmorphism syndrome due to MED13L deficiency
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Developmental delay, facial dysmorphism syndrome due to MED13L deficiency
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Developmental delay, facial dysmorphism syndrome due to MED13L deficiency
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Developmental delay, facial dysmorphism syndrome due to MED13L deficiency
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Developmental delay, facial dysmorphism syndrome due to MED13L deficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Developmental delay, facial dysmorphism syndrome due to MED13L deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Developmental delay, facial dysmorphism syndrome due to MED13L deficiency
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Developmental delay, facial dysmorphism syndrome due to MED13L deficiency
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Developmental delay, facial dysmorphism syndrome due to MED13L deficiency
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Developmental delay, facial dysmorphism syndrome due to MED13L deficiency
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Developmental delay, facial dysmorphism syndrome due to MED13L deficiency
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Developmental delay, facial dysmorphism syndrome due to MED13L deficiency
• \Disease\Developmental disorder\Developmental hereditary disorder\Developmental delay, facial dysmorphism syndrome due to MED13L deficiency
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Developmental delay, facial dysmorphism syndrome due to MED13L deficiency
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Developmental delay, facial dysmorphism syndrome due to MED13L deficiency
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Developmental delay, facial dysmorphism syndrome due to MED13L deficiency

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3773932014	Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3773933016	Developmental delay, facial dysmorphism syndrome due to MED13L deficiency	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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