733118006: Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome (disorder)

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

\Finding of back (finding)\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
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Finding of back (finding)\Finding of spinal region\Vertebral column finding\Disorder of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Finding of back (finding)\Disorder of back\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
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Finding of back (finding)\Disorder of back\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

\Finding of limb structure\Disorder of limb (disorder)\...

\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\Disorder of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Musculoskeletal finding\Bone finding\Bone absent (finding)\Congenital absence of skeletal bone\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Musculoskeletal finding\Bone finding\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\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\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Disease\Congenital disease (disorder)\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 (disorder)\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 (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Disease\Disorder of back\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\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Congenital hemivertebra\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Disease\Disorder of back\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\Developmental 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\Developmental disorder\Developmental hereditary disorder\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Disease\Developmental disorder\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\Developmental disorder\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\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
\Disease\Developmental disorder\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

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

879891000172112 syndrome de Johnson-Munson fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian 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) Belgian module (core metadata concept)

932071000172115 afalangie, hemivertebrae, urogenitale-intestinale dysgenesie-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

947851000172116 syndroom van Johnson-Munson nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Is a	Congenital hemivertebra	true	Inferred relationship	Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Is a	Congenital absence of skeletal bone	false	Inferred relationship	Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Is a	Adactyly	true	Inferred relationship	Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Associated morphology	Aplasia	true	Inferred relationship	Some	2
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Finding site	Bone structure of spine	true	Inferred relationship	Some	2
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	3
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Finding site	Phalanx structure	false	Inferred relationship	Some	3
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Finding site	Phalanx structure	true	Inferred relationship	Some	1
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	1
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

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
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
879891000172112	syndrome de Johnson-Munson	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian 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)	Belgian module (core metadata concept)
932071000172115	afalangie, hemivertebrae, urogenitale-intestinale dysgenesie-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
947851000172116	syndroom van Johnson-Munson	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)