733118006: syndrome d'aphalangie-hémivertèbre-dysgénésie uro-génito-intestinale (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital absence of spine\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\affection du rachis\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \constatation à propos du dos\Finding of spinal region\Vertebral column finding\affection du rachis\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital absence of spine\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\affection du rachis\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \constatation à propos du dos\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital absence of spine\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\...
• \Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Musculoskeletal finding\Vertebral column finding\affection du rachis\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Bone absent\Congenital absence of skeletal bone\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du rachis\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \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\Congenital absence of skeletal bone\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du rachis\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis 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\Congenital absence of skeletal bone\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital absence of spine\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital absence of spine\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\affection du dos\Disorder of spinal region (disorder)\affection du rachis\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital absence of spine\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital absence of spine\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3498796018	Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498797010	Johnson Munson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498798017	Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
763001000241112	syndrome d'aphalangie-hémivertèbre-dysgénésie uro-génito-intestinale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
879891000172112	syndrome de Johnson-Munson	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
893231000172116	syndrome d'aphalangie-hémivertèbre-dysgénésie uro-génito-intestinale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3499986013	An extremely rare congenital limb malformation syndrome, described in only 3 patients to date with the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

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US English

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