720747002: Cooks syndrome (disorder)

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

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Cooks syndrome (disorder)
\Deformity (finding)\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Cooks syndrome (disorder)

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Nail finding\Disorder of nail (disorder)\...

\Genetic disorder of nail (disorder)\Cooks syndrome (disorder)

\Developmental abnormality of nail\Congenital anomaly of nail\Cooks syndrome (disorder)

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Cooks syndrome (disorder)
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Cooks syndrome (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Cooks syndrome (disorder)

\Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Cooks syndrome (disorder)
\Finding of limb structure\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Cooks syndrome (disorder)
\Finding of limb structure\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Cooks syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Cooks syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Cooks syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Cooks syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Cooks syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Cooks syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Cooks syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Cooks syndrome (disorder)

\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Cooks syndrome (disorder)
\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Cooks syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Cooks syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Cooks syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Cooks syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Cooks syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Cooks syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Cooks syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Cooks syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Cooks syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Cooks syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Cooks syndrome (disorder)
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Cooks syndrome (disorder)
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Cooks syndrome (disorder)
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Cooks syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Cooks syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Cooks syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Cooks syndrome (disorder)

\Disease\Genetic disease\Genetic disorder of nail (disorder)\Cooks syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Cooks syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cooks syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cooks syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Cooks syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Cooks syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Cooks syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Cooks syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Cooks syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Cooks syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Cooks syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Cooks syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Cooks syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Cooks syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Cooks syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Cooks syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Cooks syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Cooks syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Cooks syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Cooks syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Cooks syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Cooks syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Cooks syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Cooks syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Cooks syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Cooks syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Cooks syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Cooks syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Cooks syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Cooks syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Cooks syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Cooks syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Cooks syndrome (disorder)
\Disease\Developmental disorder\Developmental abnormality of nail\Congenital anomaly of nail\Cooks syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3321975017 Cooks syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3321976016 Cooks syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3321977013 A rare malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. Cooks syndrome is congenital and presents with hypo/anonychia, small or absent distal phalanges and digitalization of the thumbs. Usually, the nails of digits 1-3 are progressively deformed, with anonychia congenita totalis in the digits 4-5 and in all toes. Additional features include hypoplasia of the distal phalanges in digits 2-4 with absence of the distal phalanx of digit 5. In the feet, there is absence of all distal phalanges of digits 2-5 with hypoplasia of the distal phalanx of digit 1. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3321978015 A rare malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. Cooks syndrome is congenital and presents with hypo/anonychia, small or absent distal phalanges and digitalisation of the thumbs. Usually, the nails of digits 1-3 are progressively deformed, with anonychia congenita totalis in the digits 4-5 and in all toes. Additional features include hypoplasia of the distal phalanges in digits 2-4 with absence of the distal phalanx of digit 5. In the feet, there is absence of all distal phalanges of digits 2-5 with hypoplasia of the distal phalanx of digit 1. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

874221000172110 syndrome de Cooks fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1020381000172112 ODP - onychodystrophy with hypoplasia or absence of distal phalanges fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cooks syndrome (disorder)	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	2
Cooks syndrome (disorder)	Finding site	Entire digit	true	Inferred relationship	Some	2
Cooks syndrome (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Cooks syndrome (disorder)	Finding site	Nail structure	false	Inferred relationship	Some	3
Cooks syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Cooks syndrome (disorder)	Is a	Congenital anomaly of nail	true	Inferred relationship	Some
Cooks syndrome (disorder)	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Cooks syndrome (disorder)	Is a	Brachydactyly	true	Inferred relationship	Some
Cooks syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Cooks syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Cooks syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Cooks syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cooks syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Cooks syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Cooks syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Cooks syndrome (disorder)	Finding site	Nail unit structure	true	Inferred relationship	Some	1
Cooks syndrome (disorder)	Is a	Genetic disorder of nail (disorder)	true	Inferred relationship	Some
Cooks syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3321975017	Cooks syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321976016	Cooks syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321977013	A rare malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. Cooks syndrome is congenital and presents with hypo/anonychia, small or absent distal phalanges and digitalization of the thumbs. Usually, the nails of digits 1-3 are progressively deformed, with anonychia congenita totalis in the digits 4-5 and in all toes. Additional features include hypoplasia of the distal phalanges in digits 2-4 with absence of the distal phalanx of digit 5. In the feet, there is absence of all distal phalanges of digits 2-5 with hypoplasia of the distal phalanx of digit 1.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321978015	A rare malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. Cooks syndrome is congenital and presents with hypo/anonychia, small or absent distal phalanges and digitalisation of the thumbs. Usually, the nails of digits 1-3 are progressively deformed, with anonychia congenita totalis in the digits 4-5 and in all toes. Additional features include hypoplasia of the distal phalanges in digits 2-4 with absence of the distal phalanx of digit 5. In the feet, there is absence of all distal phalanges of digits 2-5 with hypoplasia of the distal phalanx of digit 1.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
874221000172110	syndrome de Cooks	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1020381000172112	ODP - onychodystrophy with hypoplasia or absence of distal phalanges	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module