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39937001: Skin structure (body structure)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
66527011 Skin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
492326013 Skin structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
776485012 Skin structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4249211000005115 hudstruktur da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


1744 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Skin structure Is a Structure of integumentary system (body structure) false Inferred relationship Some
Skin structure Is a An anatomical structure that consists of the maximal set of organ parts so connected to one another that together they constitute a self-contained unit of macroscopic anatomy, distinct both morphologically and functionally from other such units. Together with other organs, an organ constitutes an organ system or a body part. An organ is divisible into organ parts but not organs (examples: femur, biceps, liver, heart, aorta, sciatic nerve, ovary). true Inferred relationship Some
Skin structure Is a Skin and/or subcutaneous tissue structure (body structure) true Inferred relationship Some
Skin structure del af Entire skin AND subcutaneous tissue false Additional relationship Some
Skin structure Is a Structure of skin and/or surface epithelium (body structure) true Inferred relationship Some
Skin structure Is a Structure of skin and/or skin-associated mucous membrane true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Angiokeratoma of Mibelli Finding site False Skin structure Inferred relationship Some 4
Angiokeratoma of skin Finding site False Skin structure Inferred relationship Some 2
Mixed haemangioma Finding site False Skin structure Inferred relationship Some 4
Acral pseudolymphomatous angiokeratoma of children (APACHE) Finding site False Skin structure Inferred relationship Some 4
Fabry's disease Finding site False Skin structure Inferred relationship Some 2
Targetoid hemosiderotic hemangioma Finding site False Skin structure Inferred relationship Some 3
Targetoid hemosiderotic hemangioma Finding site False Skin structure Inferred relationship Some 4
Verrucous hemangioma of skin Finding site False Skin structure Inferred relationship Some 3
Angiokeratoma circumscriptum Finding site False Skin structure Inferred relationship Some 3
Senile angioma Finding site False Skin structure Inferred relationship Some 2
Split thickness graft of skin to skin of shin Procedure site - Direct (attribute) False Skin structure Inferred relationship Some 2
Reconstruction of skin (procedure) Procedure site - Direct (attribute) True Skin structure Inferred relationship Some 1
Arthritis mutilans (disorder) Finding site False Skin structure Inferred relationship Some 3
Severe achondrolasia with developmental delay and acanthosis nigricans Finding site False Skin structure Inferred relationship Some
Localised cutaneous erysipeloid Finding site False Skin structure Inferred relationship Some 2
Swab from pressure injury (specimen) Specimen source topography (attribute) False Skin structure Inferred relationship Some 2
Gangrenous pressure injury Finding site False Skin structure Inferred relationship Some 1
Split thickness graft of skin to skin of foot (procedure) Procedure site - Direct (attribute) False Skin structure Inferred relationship Some 2
Split thickness graft of skin to skin of hand (procedure) Procedure site - Direct (attribute) False Skin structure Inferred relationship Some 2
Acquired keratosis pilaris Finding site False Skin structure Inferred relationship Some 3
Attachment of flap graft to hand Procedure site - Indirect (attribute) False Skin structure Inferred relationship Some 5
Radial forearm free flap Procedure site - Indirect (attribute) False Skin structure Inferred relationship Some 4
Malignant cylindroma of skin (disorder) Finding site False Skin structure Inferred relationship Some 2
Excision of dermatofibroma (procedure) Procedure site - Direct (attribute) True Skin structure Inferred relationship Some 1
Fibrous corn (disorder) Finding site False Skin structure Inferred relationship Some 3
Fibrous corn (disorder) Finding site False Skin structure Inferred relationship Some 4
Lichen sclerosus of penis (disorder) Finding site False Skin structure Inferred relationship Some 3
Xanthoma of lower eyelid (disorder) Finding site False Skin structure Inferred relationship Some
Xanthoma of upper eyelid Finding site False Skin structure Inferred relationship Some
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance. Finding site False Skin structure Inferred relationship Some
Cutis laxa with osteodystrophy Finding site True Skin structure Inferred relationship Some 3
Lamelløs iktyose OG invagineret trikoreksi-syndrom Finding site False Skin structure Inferred relationship Some 2
Multiple lentigines syndrome (disorder) Finding site False Skin structure Inferred relationship Some 3
Severe ichthyoses Finding site False Skin structure Inferred relationship Some 2
Café-au-lait macules with temporal dysrhythmia (disorder) Finding site False Skin structure Inferred relationship Some 3
Flat birthmark Finding site False Skin structure Inferred relationship Some 3
Cutis laxa, recessive, type I Finding site True Skin structure Inferred relationship Some 2
Limb reduction-ichthyosis syndrome (disorder) Finding site False Skin structure Inferred relationship Some 3
Mibellis porokeratose, unilateral lineær type Finding site False Skin structure Inferred relationship Some 3
Posterior fossa brain malformation, haemaniogma, arterial anomaly, cardiac defect and aortic coarctation, eye abnormality synodrome and sternal anomaly syndrome Finding site False Skin structure Inferred relationship Some 1
Neurofibromatosis type 2 Finding site True Skin structure Inferred relationship Some 3
Aplasia cutis congenita Finding site False Skin structure Inferred relationship Some 2
Giant porokeratosis Finding site False Skin structure Inferred relationship Some 3
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder) Finding site False Skin structure Inferred relationship Some 2
lokaliseret hudatrofi på abdominalvæggen Finding site False Skin structure Inferred relationship Some 3
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome (disorder) Finding site False Skin structure Inferred relationship Some 1
Netherton syndrome Finding site False Skin structure Inferred relationship Some 2
Mibellis porokeratose, dissemineret superficiel type Finding site False Skin structure Inferred relationship Some 3
Autosomal dominant ichthyosis (disorder) Finding site False Skin structure Inferred relationship Some 2
Localized congenital cutis laxa (disorder) Finding site True Skin structure Inferred relationship Some 2
Mibellis porokeratose, plaquetype Finding site False Skin structure Inferred relationship Some 3
Congenital anomaly of skin Finding site False Skin structure Inferred relationship Some 2
Cutaneous lesion resulting from spina bifida (disorder) Finding site False Skin structure Inferred relationship Some 2
Lamellar ichthyosis Finding site False Skin structure Inferred relationship Some 3
Cutaneous lesion resulting from spinal dysraphism (disorder) Finding site False Skin structure Inferred relationship Some 2
A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. Patients usually present at birth with generalized erythema and ichthyosiform scaling. The skin manifestations are progressive with erythrokeratoderma characterized by well-demarcated erythematous and keratotic plaques with a verrucous appearance predominantly located on the face, scalp, ears, elbows and knees. Hearing loss is congenital, usually sensorineural and is often profound. Caused by mutations involving the N-terminus and first extracellular loop of the GJB2 gene (13q11-q12), encoding connexin-26. Most of the reported cases are sporadic, but familial cases with autosomal dominant inheritance have been reported. Finding site False Skin structure Inferred relationship Some 2
Pindsvinemenneske Finding site False Skin structure Inferred relationship Some 2
Congenital pigmentary skin anomalies Finding site False Skin structure Inferred relationship Some 3
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) Finding site False Skin structure Inferred relationship Some 2
Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder) Finding site False Skin structure Inferred relationship Some 2
Ichthyosis hystrix Bäfverstedt type (disorder) Finding site False Skin structure Inferred relationship Some 2
Axillary freckling due to neurofibromatosis (disorder) Finding site True Skin structure Inferred relationship Some 3
A rare type of keratinopathic ichthyosis characterised by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma. The skin is usually normal at birth. The disease starts in early childhood with severe hyperkeratosis of yellow-brown or grey colour, and of spiky, cobblestone-like (hystrix) or verrucous appearance. Contrary to other keratinopathic ichthyoses, no skin fragility/blister formation or erythroderma is present. The disease results from heterozygous frameshift mutation in a section of the KRT1 gene encoding keratin 1 (K1). These mutations lead to an abnormal supramolecular organisation of keratin intermediate filaments and may be related to defects in cytoplasmic trafficking and integrity of cellular structures such as organelles and nucleus. Transmission is autosomal dominant but some sporadic cases have been reported. Finding site False Skin structure Inferred relationship Some 2
Cutaneous syndrome with ichthyosis Finding site False Skin structure Inferred relationship Some 2
Aplasia cutis congenita due to teratogenic drug (Type 7) (disorder) Finding site False Skin structure Inferred relationship Some 2
Localised bullous ichthyosiform erythroderma Finding site False Skin structure Inferred relationship Some 2
Aplasia cutis congenita associated with fetus papyraceus (Type 5) (disorder) Finding site False Skin structure Inferred relationship Some 2
Incontinentia pigmenti syndrome Finding site False Skin structure Inferred relationship Some 2
Cutis laxa, autosomal dominant Finding site True Skin structure Inferred relationship Some 2
Atypical ichthyosis vulgaris with hypogonadism Finding site False Skin structure Inferred relationship Some 2
Aplasia cutis in Johanson-Blizzard syndrome (disorder) Finding site False Skin structure Inferred relationship Some 2
Neurofibromatose, type 3 Finding site False Skin structure Inferred relationship Some 3
Café au lait-pletter uden neurofibromatose Finding site False Skin structure Inferred relationship Some 3
Congenital ectodermal defect Finding site False Skin structure Inferred relationship Some 2
Senter syndrome Finding site False Skin structure Inferred relationship Some 2
Aplasia cutis congenita due to underlying malformation (Type 4) (disorder) Finding site False Skin structure Inferred relationship Some 2
Cutis laxa, recessive, type II Finding site True Skin structure Inferred relationship Some 2
Erythrodermic lamellar ichthyosis (disorder) Finding site False Skin structure Inferred relationship Some 3
Focal dermal hypoplasia Finding site False Skin structure Inferred relationship Some 2
Ichthyosis vulgaris Finding site False Skin structure Inferred relationship Some 2
Dominant congenital ichthyosiform erythroderma Finding site False Skin structure Inferred relationship Some 2
Rud's syndrome Finding site False Skin structure Inferred relationship Some 2
Follicular ichthyosis Finding site False Skin structure Inferred relationship Some 3
Congenital absence of skin on scalp with epidermal naevi Finding site False Skin structure Inferred relationship Some 2
Autosomal recessive ichthyosis (disorder) Finding site False Skin structure Inferred relationship Some 2
Non-erythrodermic lamellar ichthyosis Finding site False Skin structure Inferred relationship Some 3
Congenital non bullous ichthyosiform erythroderma Finding site False Skin structure Inferred relationship Some 2
Ichthyosis bullosa of Siemens Finding site False Skin structure Inferred relationship Some 2
Brugsch's syndrome Finding site False Skin structure Inferred relationship Some 2
Ichthyosis congenita with biliary atresia Finding site False Skin structure Inferred relationship Some 4
Ichthyosis hystrix gravior, Rheydts type Finding site False Skin structure Inferred relationship Some 2
X-linked ichthyosis with steryl-sulphatase deficiency Finding site False Skin structure Inferred relationship Some 2
Cutis laxa, autosomal recessive (disorder) Finding site True Skin structure Inferred relationship Some 2
Hereditary neurocutaneous angiomata (disorder) Finding site False Skin structure Inferred relationship Some 3
Ichthyosis linearis circumflexa Finding site False Skin structure Inferred relationship Some 2
Porokeratosis of Mibelli Finding site False Skin structure Inferred relationship Some 3
Segmental neurofibromatosis Finding site False Skin structure Inferred relationship Some 3
Bullous ichthyosiform erythroderma Finding site True Skin structure Inferred relationship Some 2
Aplasia cutis congenita following intra-uterine infection (Type 8) (disorder) Finding site False Skin structure Inferred relationship Some 2
Autosomal dominant lamellar ichthyosis Finding site False Skin structure Inferred relationship Some 3
Aplasia cutis in Trisomy 13 syndrome (disorder) Finding site False Skin structure Inferred relationship Some 2

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Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)

Anatomy structure and part association reference set (foundation metadata concept)

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