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

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Head finding (finding)\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly (disorder)\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism\SATB2-associated syndrome
\Head finding (finding)\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Head finding (finding)\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Head finding (finding)\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\SATB2-associated syndrome
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly (disorder)\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism\SATB2-associated syndrome
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Head finding (finding)\Finding of head region\Disorder of jaw\Anomaly of jaw size\Mandibular jaw size anomaly (disorder)\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism\SATB2-associated syndrome
\Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of mandible\Mandibular jaw size anomaly (disorder)\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism\SATB2-associated syndrome
\Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Head finding (finding)\Finding of head region\Disorder of jaw\Congenital anomaly of jaw (disorder)\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Head finding (finding)\Finding of head region\Disorder of jaw\Congenital anomaly of jaw (disorder)\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\SATB2-associated syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly (disorder)\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism\SATB2-associated syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\SATB2-associated syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Congenital micrognathism\SATB2-associated syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw (disorder)\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw (disorder)\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Anomaly of jaw size\Mandibular jaw size anomaly (disorder)\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism\SATB2-associated syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of mandible\Mandibular jaw size anomaly (disorder)\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism\SATB2-associated syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw (disorder)\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw (disorder)\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\SATB2-associated syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\SATB2-associated syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\SATB2-associated syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\SATB2-associated syndrome

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

5399838018 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by 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

5399839014 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by 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

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

5399838018 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by 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

5399839014 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by 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

3414241001000111 SATB2-assoziiertes Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3414241001000111 SATB2-assoziiertes Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

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
5399838018	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by 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
5399839014	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by 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
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
5399838018	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by 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
5399839014	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by 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
3414241001000111	SATB2-assoziiertes Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3414241001000111	SATB2-assoziiertes Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module