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

SNOMED CT Concept\constatation clinique\...

\Digestive system finding (finding)\Finding of mouth region (finding)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Digestive system finding (finding)\Finding of mouth region (finding)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Digestive system finding (finding)\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 (disorder)\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Digestive system finding (finding)\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Digestive system finding (finding)\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\Finding of head region\Finding of mouth region (finding)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Finding of head region\Finding of mouth region (finding)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\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
\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\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 (disorder)\Congenital anomaly of tooth (disorder)\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 (disorder)\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 (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\SATB2-associated syndrome
\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
\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism\SATB2-associated syndrome
\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
\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
\Finding of head region\affection de la mâchoire\Anomaly of jaw size (disorder)\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism\SATB2-associated syndrome
\Finding of head region\affection de la mâchoire\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism\SATB2-associated syndrome
\Finding of head region\affection de la mâchoire\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Finding of head region\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Finding of head region\affection de la mâchoire\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Finding of head region\affection de la mâchoire\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome

\affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\affection de la tête\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\SATB2-associated syndrome
\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\affection de la tête\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism\SATB2-associated syndrome
\affection de la tête\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\affection de la tête\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\SATB2-associated syndrome
\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Craniofacial microsomia\Congenital micrognathism\SATB2-associated syndrome
\affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\affection de la tête\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\affection de la tête\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\affection de la tête\affection de la mâchoire\Anomaly of jaw size (disorder)\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism\SATB2-associated syndrome
\affection de la tête\affection de la mâchoire\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism\SATB2-associated syndrome
\affection de la tête\affection de la mâchoire\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\affection de la tête\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\affection de la tête\affection de la mâchoire\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\affection de la tête\affection de la mâchoire\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome

\Disease\Genetic disease\SATB2-associated syndrome
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Craniofacial microsomia\Congenital micrognathism\SATB2-associated syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism\SATB2-associated syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Craniofacial microsomia\Congenital micrognathism\SATB2-associated syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\affection de la tête\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\SATB2-associated syndrome
\Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\affection de la tête\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism\SATB2-associated syndrome
\Disease\affection de la tête\Disorder of face (disorder)\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\affection de la tête\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\SATB2-associated syndrome
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Craniofacial microsomia\Congenital micrognathism\SATB2-associated syndrome
\Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\affection de la tête\affection de la mâchoire\Anomaly of jaw size (disorder)\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism\SATB2-associated syndrome
\Disease\affection de la tête\affection de la mâchoire\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone (disorder)\Congenital micrognathism\SATB2-associated syndrome
\Disease\affection de la tête\affection de la mâchoire\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\affection de la tête\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\affection de la tête\affection de la mâchoire\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\affection de la tête\affection de la mâchoire\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\trouble mental\troubles mentaux du développement\Intellectual disability\SATB2-associated syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\SATB2-associated syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\SATB2-associated syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Craniofacial microsomia\Congenital micrognathism\SATB2-associated syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Craniofacial microsomia\Congenital micrognathism\SATB2-associated syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\SATB2-associated syndrome
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Craniofacial microsomia\Congenital micrognathism\SATB2-associated syndrome
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\trouble du développement\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\SATB2-associated syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\SATB2-associated syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Craniofacial microsomia\Congenital micrognathism\SATB2-associated syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Craniofacial microsomia\Congenital micrognathism\SATB2-associated syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\SATB2-associated syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\SATB2-associated syndrome
\Disease\trouble du développement\retard de développement\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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
SATB2-associated syndrome	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some
SATB2-associated syndrome	est un(e) (attribut)	retard de développement	true	Inferred relationship	Some
SATB2-associated syndrome	est un(e) (attribut)	Congenital micrognathism	true	Inferred relationship	Some
SATB2-associated syndrome	est un(e) (attribut)	Congenital anomaly of tooth (disorder)	true	Inferred relationship	Some
SATB2-associated syndrome	est un(e) (attribut)	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
SATB2-associated syndrome	est un(e) (attribut)	Genetic disease	true	Inferred relationship	Some
SATB2-associated syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
SATB2-associated syndrome	localisation d'une constatation (attribut)	dent (structure corporelle)	true	Inferred relationship	Some	1
SATB2-associated syndrome	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
SATB2-associated syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
SATB2-associated syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	2
SATB2-associated syndrome	localisation d'une constatation (attribut)	os de la mandibule	true	Inferred relationship	Some	2
SATB2-associated syndrome	morphologie associée (attribut)	Hypoplasia (morphologic abnormality)	true	Inferred relationship	Some	2
SATB2-associated syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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
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