SNOMED CT, US Edition

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/SNOMEDCT/773552008
http://purl.bioontology.org/ontology/SNOMEDCT/773552008
Preferred Name

Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
Definitions
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. A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss. A rare, genetic, neurodevelopmental disorder characterised by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioural anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss. 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.
Synonyms
CTCF-related neurodevelopmental disorder
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

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.

A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.

A rare, genetic, neurodevelopmental disorder characterised by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioural anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.

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.
prefLabel
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
altLabel
CTCF-related neurodevelopmental disorder
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome (disorder)
Has interpretation
Type ID
900000000000003001
900000000000013009
Semantic type UMLS property
Has finding site
interprets
Effective time
20190131
cui
C4750955
Has pathological process
CTV3ID
XV7ZV
DEFINITION STATUS ID
900000000000074008
CASE SIGNIFICANCE ID
900000000000448009
900000000000017005
Occurs in
tui
T047
Active
1
Has associated morphology
notation
773552008
type
subClassOf
Subset member
6011000124106~MAPTARGET~F88
447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
6011000124106~MAPADVICE~ALWAYS R63.3
447562003~MAPTARGET~Q87.8
447562003~MAPGROUP~1
6011000124106~MAPTARGET~F79
447562003~CORRELATIONID~447561005
6011000124106~MAPADVICE~ALWAYS Q02 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPADVICE~IF AGE AT ONSET OF CLINICAL FINDING BEFORE 29.0 DAYS CHOOSE P92.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS F88
6011000124106~MAPTARGET~P92.9
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPRULE~OTHERWISE TRUE
6011000124106~MAPGROUP~4
6011000124106~MAPCATEGORYID~447639009
447562003~MAPADVICE~ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPADVICE~ALWAYS R63.30
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~IFA 445518008 &#x7C; Age at onset of clinical finding (observable entity) &#x7C; < 29.0 days
900000000000497000~MAPTARGET~XV7ZV
6011000124106~MAPTARGET~Q02
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
6011000124106~MAPTARGET~R63.3
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPPRIORITY~2
6011000124106~MAPTARGET~R63.30
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