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1208488006: Special AT-rich sequence-binding protein 2-associated syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4964841015 SATB2-associated syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4964970011 Special AT-rich sequence-binding protein 2-associated syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4964971010 Special AT-rich sequence-binding protein 2-associated syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4964842010 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of moderate to severe developmental delay/intellectual disability with absent or limited speech development, various behavioral problems (including autistic features, hyperactivity, or aggressiveness) and craniofacial anomalies such as long face, high and prominent forehead, bulbous nose with low-hanging columella, thin vermillion of the upper lip, palatal (cleft palate, high-arched palate, and bifid uvula) and dental (abnormal upper incisors) abnormalities, and micrognathia. Hypotonia and feeding difficulties are frequent. Other supportive findings may include skeletal anomalies with low bone density and abnormal brain imaging. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4964843017 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of moderate to severe developmental delay/intellectual disability with absent or limited speech development, various behavioural problems (including autistic features, hyperactivity, or aggressiveness) and craniofacial anomalies such as long face, high and prominent forehead, bulbous nose with low-hanging columella, thin vermillion of the upper lip, palatal (cleft palate, high-arched palate, and bifid uvula) and dental (abnormal upper incisors) abnormalities, and micrognathia. Hypotonia and feeding difficulties are frequent. Other supportive findings may include skeletal anomalies with low bone density and abnormal brain imaging. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
SATB2-associated syndrome Is a Intellectual disability true Inferred relationship Some
SATB2-associated syndrome Is a Developmental delay true Inferred relationship Some
SATB2-associated syndrome Is a Congenital micrognathism true Inferred relationship Some
SATB2-associated syndrome Is a Congenital anomaly of tooth (disorder) true Inferred relationship Some
SATB2-associated syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
SATB2-associated syndrome Is a Genetic disease true Inferred relationship Some
SATB2-associated syndrome Occurrence Congenital true Inferred relationship Some 1
SATB2-associated syndrome Finding site Tooth structure true Inferred relationship Some 1
SATB2-associated syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
SATB2-associated syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
SATB2-associated syndrome Occurrence Congenital true Inferred relationship Some 2
SATB2-associated syndrome Finding site Bone structure of mandible true Inferred relationship Some 2
SATB2-associated syndrome Associated morphology Hypoplasia true Inferred relationship Some 2
SATB2-associated syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
SATB2-associated syndrome Interprets Adaptation behavior (observable entity) true Inferred relationship Some 3
SATB2-associated syndrome Has interpretation Impaired true Inferred relationship Some 3
SATB2-associated syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Some 4
SATB2-associated syndrome Has interpretation Impaired true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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