1142193008: Congenital dysplasia of nail unit (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Congenital dysplasia of nail unit (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Congenital dysplasia of nail unit (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Congenital dysplasia of nail unit (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Congenital dysplasia of nail unit (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Congenital dysplasia of nail unit (disorder)

\Finding of limb structure\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Congenital dysplasia of nail unit (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of soft tissue of limb\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Congenital dysplasia of nail unit (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Congenital dysplasia of nail unit (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Congenital dysplasia of nail unit (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Congenital dysplasia of nail unit (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Congenital dysplasia of nail unit (disorder)

\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Congenital dysplasia of nail unit (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\Congenital dysplasia of nail unit (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Congenital dysplasia of nail unit (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Congenital dysplasia of nail unit (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Congenital dysplasia of nail unit (disorder)
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Congenital dysplasia of nail unit (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\Congenital dysplasia of nail unit (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\Congenital dysplasia of nail unit (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Congenital dysplasia of nail unit (disorder)

\Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Congenital dysplasia of nail unit (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\Congenital dysplasia of nail unit (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\Congenital dysplasia of nail unit (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Congenital dysplasia of nail unit (disorder)
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Congenital dysplasia of nail unit (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\Congenital dysplasia of nail unit (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Congenital dysplasia of nail unit (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Congenital dysplasia of nail unit (disorder)

\Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Congenital dysplasia of nail unit (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Congenital dysplasia of nail unit (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Congenital dysplasia of nail unit (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Congenital dysplasia of nail unit (disorder)
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Congenital dysplasia of nail unit (disorder)
\Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Congenital dysplasia of nail unit (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\Congenital dysplasia of nail unit (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\Congenital dysplasia of nail unit (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Congenital dysplasia of nail unit (disorder)
\Disease\Disorder of limb (disorder)\Disorder of soft tissue of limb\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Congenital dysplasia of nail unit (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Congenital dysplasia of nail unit (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Congenital dysplasia of nail unit (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Congenital dysplasia of nail unit (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Congenital dysplasia of nail unit (disorder)
\Disease\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Congenital dysplasia of nail unit (disorder)
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Congenital dysplasia of nail unit (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\Congenital dysplasia of nail unit (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\Congenital dysplasia of nail unit (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Congenital dysplasia of nail unit (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Congenital dysplasia of nail unit (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Congenital dysplasia of nail unit (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Congenital dysplasia of nail unit (disorder)
\Disease\Developmental disorder\Developmental abnormality of nail\Congenital anomaly of nail\Congenital dysplasia of nail unit (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4536927019 Congenital dysplasia of nail unit (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5455302017 Congenital dysplasia of nail unit en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital dysplasia of nail unit (disorder)	Is a	Skin lesion	true	Inferred relationship	Some
Congenital dysplasia of nail unit (disorder)	Finding site	Nail unit is a complex structure which consists of nail plate, nail bed, nail root and skin around the nail plate.	true	Inferred relationship	Some	1
Congenital dysplasia of nail unit (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Congenital dysplasia of nail unit (disorder)	Is a	Congenital anomaly of nail	true	Inferred relationship	Some
Congenital dysplasia of nail unit (disorder)	Is a	Congenital dysplasia of limb (disorder)	true	Inferred relationship	Some
Congenital dysplasia of nail unit (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital dysplasia of nail unit (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital dysplasia of nail unit of toe (disorder)	Is a	True	Congenital dysplasia of nail unit (disorder)	Inferred relationship	Some
Congenital dysplasia of nail unit of finger (disorder)	Is a	True	Congenital dysplasia of nail unit (disorder)	Inferred relationship	Some
Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.	Is a	True	Congenital dysplasia of nail unit (disorder)	Inferred relationship	Some
A rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.	Is a	True	Congenital dysplasia of nail unit (disorder)	Inferred relationship	Some
A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.	Is a	True	Congenital dysplasia of nail unit (disorder)	Inferred relationship	Some
A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.	Is a	True	Congenital dysplasia of nail unit (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4536927019	Congenital dysplasia of nail unit (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5455302017	Congenital dysplasia of nail unit	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core