771266007: Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)

\Deformity (finding)\Deformity of neck\Torticollis\Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)
\Deformity (finding)\Congenital deformity\Congenital deformity of soft tissue\Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)
\Deformity (finding)\Muscle contracture\Torticollis\Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)

\Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\...

\Hereditary nephropathy (disorder)\Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)

\Kidney lesion\Renal dysplasia\Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)

\Congenital anomaly of the kidney\Renal dysplasia\Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)

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

\Deformity of neck\Torticollis\Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)

\Disorder of neck (disorder)\Lesion of neck\Torticollis\Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)
\Disorder of neck (disorder)\Musculoskeletal disorder of the neck\Torticollis\Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)
\Disorder of neck (disorder)\Congenital anomaly of neck\Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\...

\Lesion of skeletal muscle (disorder)\Muscle contracture\Torticollis\Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)

\Congenital anomaly of skeletal muscle\Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)

\Hereditary disorder of musculoskeletal system\Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)

\Musculoskeletal disorder of the neck\Torticollis\Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)

\Disorder of skeletal muscle\Lesion of skeletal muscle (disorder)\Muscle contracture\Torticollis\Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)
\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)

Descriptions:

Id Description Lang Type Status Case? Module

3705350016 Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3705351017 Torticollis, keloids, cryptorchidism, renal dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3705353019 An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3777379018 An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented naevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

7677141000172111 syndrome de torticolis, chéloïdes, cryptorchidie et dysplasie rénale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7677151000172113 syndrome de Goeminne fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5553331000172115 torticollis-keloïden-cryptorchisme-renale dysplasie-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5553341000172110 syndroom van torticollis, keloïden, cryptorchisme en nierdysplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5553351000172112 syndroom van torticollis, keloïden, cryptorchisme en dysplasie van nier nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Is a	Torticollis	true	Inferred relationship	Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Is a	Renal dysplasia	true	Inferred relationship	Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Is a	Congenital anomaly of skin	true	Inferred relationship	Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Finding site	Kidney structure	true	Inferred relationship	Some	3
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Finding site	Skeletal muscle structure of neck	true	Inferred relationship	Some	2
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Associated morphology	Contracture	true	Inferred relationship	Some	2
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Is a	Congenital anomaly of neck	true	Inferred relationship	Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Is a	Congenital deformity	false	Inferred relationship	Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Is a	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Is a	Congenital deformity of soft tissue	true	Inferred relationship	Some

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
3705350016	Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705351017	Torticollis, keloids, cryptorchidism, renal dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705353019	An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3777379018	An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented naevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
7677141000172111	syndrome de torticolis, chéloïdes, cryptorchidie et dysplasie rénale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7677151000172113	syndrome de Goeminne	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5553331000172115	torticollis-keloïden-cryptorchisme-renale dysplasie-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5553341000172110	syndroom van torticollis, keloïden, cryptorchisme en nierdysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5553351000172112	syndroom van torticollis, keloïden, cryptorchisme en dysplasie van nier	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)