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


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3705350016 Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3705351017 Torticollis, keloids, cryptorchidism, renal dysplasia syndrome en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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