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

SNOMED CT Concept\Clinical finding\...

\Digestive system finding\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\SATB2-associated syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\SATB2-associated syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth\SATB2-associated syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\SATB2-associated syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\SATB2-associated syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\SATB2-associated syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\SATB2-associated syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\SATB2-associated syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\SATB2-associated syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\SATB2-associated syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of tooth\SATB2-associated syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\SATB2-associated syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\SATB2-associated syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\SATB2-associated syndrome

\Finding of head and neck region\Head finding\...

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

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

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\SATB2-associated syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\SATB2-associated syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\SATB2-associated syndrome

\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\SATB2-associated syndrome
\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\SATB2-associated syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\SATB2-associated syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\SATB2-associated syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\SATB2-associated syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\SATB2-associated syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome

\Disease\Genetic disease\SATB2-associated syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\SATB2-associated syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\SATB2-associated syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\SATB2-associated syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\SATB2-associated syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\SATB2-associated syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\SATB2-associated syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\SATB2-associated syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Disorder of head\Disorder of jaw\Anomaly of jaw size\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\SATB2-associated syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\SATB2-associated syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\SATB2-associated syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\SATB2-associated syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\SATB2-associated syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\SATB2-associated syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\SATB2-associated syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\SATB2-associated syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Developmental disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\SATB2-associated syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\SATB2-associated syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\SATB2-associated syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\SATB2-associated syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\SATB2-associated syndrome
\Disease\Developmental disorder\Developmental delay\SATB2-associated syndrome

Status: current, Primitive. Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4964841015 SATB2-associated syndrome en Synonym Active Case sensitive SNOMED CT core

4964970011 Special AT-rich sequence-binding protein 2-associated syndrome en Synonym Active Initial character case insensitive SNOMED CT core

4964971010 Special AT-rich sequence-binding protein 2-associated syndrome (disorder) en Fully specified name Active Initial character case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

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	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	true	Inferred relationship	Some	1
SATB2-associated syndrome	Pathological process	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	Pathological developmental process	true	Inferred relationship	Some	2
SATB2-associated syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	3
SATB2-associated syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
SATB2-associated syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	4
SATB2-associated syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4

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Id	Description	Lang	Type	Status	Case?	Module
4964841015	SATB2-associated syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4964970011	Special AT-rich sequence-binding protein 2-associated syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4964971010	Special AT-rich sequence-binding protein 2-associated syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core