770564004: Microcephalic primordial dwarfism Alazami type (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Microcephalic primordial dwarfism Alazami type
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism Alazami type
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalic primordial dwarfism Alazami type
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Alazami type
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Alazami type
• \Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalic primordial dwarfism Alazami type
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Alazami type
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Microcephalic primordial dwarfism Alazami type
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Microcephalic primordial dwarfism Alazami type
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Microcephalic primordial dwarfism Alazami type
• \General finding of observation of patient\Body measurement finding\...
• \Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism Alazami type
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalic primordial dwarfism Alazami type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalic primordial dwarfism Alazami type
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalic primordial dwarfism Alazami type
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Alazami type
• \Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalic primordial dwarfism Alazami type
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Alazami type
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Alazami type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephalic primordial dwarfism Alazami type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Alazami type
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Microcephalic primordial dwarfism Alazami type
• \Disease\Developmental disorder\Developmental hereditary disorder\Microcephalic primordial dwarfism Alazami type
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Alazami type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephalic primordial dwarfism Alazami type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Alazami type
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism Alazami type

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3701290014	Microcephalic primordial dwarfism Alazami type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3701291013	Microcephalic primordial dwarfism Alazami type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3701292018	Alazami syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3701293011	A rare genetic developmental defect during embryogenesis syndrome with characteristics of severe intellectual disability, distinct dysmorphic facial features (including triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism to a milder phenotype with less severe growth restriction. Other reported features include skeletal findings (for example scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and anxiety. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the LARP7 gene on chromosome 4q25.	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

Description inactivation indicator reference set

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