778000002: 3q26q27 microdeletion syndrome (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3736353011 Monosomy 3q26q27 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3736354017 3q26q27 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3736355016 3q26q27 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3736356015 Monosomy 3q26-q27 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3736357012 A rare partial autosomal monosomy syndrome with characteristics of neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioural abnormalities (ADHD, Asperger syndrome) have also been reported. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
3736358019 A rare partial autosomal monosomy syndrome with characteristics of neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5405530012 A rare partial autosomal microdeletion syndrome characterized by neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5405531011 A rare partial autosomal microdeletion syndrome characterised by neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioural abnormalities (ADHD, Asperger syndrome) have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
3q26q27 microdeletion syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	1
3q26q27 microdeletion syndrome	Is a	Deletion of part of long arm of chromosome 3 (disorder)	false	Inferred relationship	Some
3q26q27 microdeletion syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
3q26q27 microdeletion syndrome	Finding site	Chromosome pair 3	false	Inferred relationship	Some	2
3q26q27 microdeletion syndrome	Occurrence	Congenital	false	Inferred relationship	Some	1
3q26q27 microdeletion syndrome	Finding site	Chromosome pair 3	false	Inferred relationship	Some	1
3q26q27 microdeletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	false	Inferred relationship	Some	2
3q26q27 microdeletion syndrome	Is a	Multiple system malformation syndrome	false	Inferred relationship	Some
3q26q27 microdeletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	false	Inferred relationship	Some	1
3q26q27 microdeletion syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
3q26q27 microdeletion syndrome	Finding site	Long arm of chromosome	false	Inferred relationship	Some	2
3q26q27 microdeletion syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3736353011	Monosomy 3q26q27	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3736354017	3q26q27 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3736355016	3q26q27 microdeletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3736356015	Monosomy 3q26-q27	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3736357012	A rare partial autosomal monosomy syndrome with characteristics of neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioural abnormalities (ADHD, Asperger syndrome) have also been reported.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3736358019	A rare partial autosomal monosomy syndrome with characteristics of neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405530012	A rare partial autosomal microdeletion syndrome characterized by neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405531011	A rare partial autosomal microdeletion syndrome characterised by neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioural abnormalities (ADHD, Asperger syndrome) have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core