770564004: microcefale primordiale dwerggroei type Alazami (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism Alazami type (disorder)
• \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\Microcephalic primordial dwarfism Alazami type (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\Microcephalic primordial dwarfism Alazami type (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism Alazami type (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\Microcephalic primordial dwarfism Alazami type (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Microcephalic primordial dwarfism Alazami type (disorder)
• \Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism Alazami type (disorder)
• \Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism Alazami type (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism Alazami type (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Microcephalic primordial dwarfism Alazami type (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Microcephalic primordial dwarfism Alazami type (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Microcephalic primordial dwarfism Alazami type (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalic primordial dwarfism Alazami type (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalic primordial dwarfism Alazami type (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\Microcephalic primordial dwarfism Alazami type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism Alazami type (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\Microcephalic primordial dwarfism Alazami type (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Alazami type (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism Alazami type (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Alazami type (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Microcephalic primordial dwarfism Alazami type (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Microcephalic primordial dwarfism Alazami type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Alazami type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism Alazami type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Alazami type (disorder)
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism Alazami type (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
3701290014	Microcephalic primordial dwarfism Alazami type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3701291013	Microcephalic primordial dwarfism Alazami type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3701292018	Alazami syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6789121000146119	microcefale primordiale dwerggroei type Alazami	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6789131000146117	microcefale primordiale dwerggroei type Alazami (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6789141000146113	syndroom van Alazami	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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