773552008: Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
• \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\Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\...
• \Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
• \Disease\trouble du développement\retard de développement\Global developmental delay\Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome

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
3724056017	Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724057014	Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724058016	A rare genetic syndromic intellectual disability disorder characterised by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioural anomalies (for example autistic behaviour, sleeping disturbances), urogenital abnormalities (for example cryptorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects. There is evidence the disease is caused by heterozygous mutation in the CTCF gene on chromosome 16q22.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724059012	A rare genetic syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomalies (for example autistic behavior, sleeping disturbances), urogenital abnormalities (for example cryptorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects. There is evidence the disease is caused by heterozygous mutation in the CTCF gene on chromosome 16q22.	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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