763773007: Macrocephaly and developmental delay syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Macrocephaly and developmental delay syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Macrocephaly\Congenital macrocephaly\Macrocephaly and developmental delay syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly and developmental delay syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly and developmental delay syndrome
• \Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly and developmental delay syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly and developmental delay syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Macrocephaly and developmental delay syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Macrocephaly and developmental delay syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Macrocephaly and developmental delay syndrome
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Macrocephaly\Congenital macrocephaly\Macrocephaly and developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Macrocephaly and developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Macrocephaly and developmental delay syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly and developmental delay syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly and developmental delay syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly and developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Macrocephaly and developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly and developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly and developmental delay syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Macrocephaly and developmental delay syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Macrocephaly and developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Macrocephaly and developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly and developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly and developmental delay syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3643793019	Macrocephaly and developmental delay syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3643794013	Macrocephaly and developmental delay syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3644013019	A rare intellectual disability syndrome characterised by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioural abnormalities (e.g. anxiety, stereotyped movements) and absence or generalised tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. The disease is caused by homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13.	en	Definition	Active	Case sensitive	SNOMED CT core
3644014013	A rare intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. The disease is caused by homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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