1197588008: X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \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\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Finding of head region\affection de la mâchoire\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \affection de la tête\affection de la mâchoire\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\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 prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Musculoskeletal finding\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 prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Musculoskeletal finding\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 prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \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 prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \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 prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \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 prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\affection de la tête\affection de la mâchoire\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \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 prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \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 prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \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 prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \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 prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4697269016	X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4697270015	X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4697271016	A rare syndromic intellectual disability with characteristics of hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding. Caused by mutation in the RPL10 gene on chromosome Xq28.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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