111474003: Disorder involving the integument of fetus OR newborn (disorder)

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

\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn

\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

178714019 Disorder involving the integument of fetus OR newborn en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

631907019 Disorder involving the integument of fetus OR newborn (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1913761000005114 Sygdom der involverer integumentet hos foster ELLER nyfødt da Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder involving the integument of fetus OR newborn	Is a	Tilstande, der involverer integumentet OG/ELLER temperaturreguleringen hos foster ELLER nyfødt	false	Inferred relationship	Some
Disorder involving the integument of fetus OR newborn	Is a	Dermatosis of infancy (disorder)	false	Inferred relationship	Some
Disorder involving the integument of fetus OR newborn	Occurrence	Perinatal state	false	Inferred relationship	Some
Disorder involving the integument of fetus OR newborn	Finding site	Skin structure	false	Inferred relationship	Some
Disorder involving the integument of fetus OR newborn	Finding site	Fetal structure	false	Inferred relationship	Some
Disorder involving the integument of fetus OR newborn	Occurrence	Neonatal	false	Inferred relationship	Some
Disorder involving the integument of fetus OR newborn	Occurrence	Fetal period	false	Inferred relationship	Some
Disorder involving the integument of fetus OR newborn	Occurrence	Perinatalperiode	false	Inferred relationship	Some
Disorder involving the integument of fetus OR newborn	Occurrence	Infancy	false	Inferred relationship	Some
Disorder involving the integument of fetus OR newborn	Finding site	Skin and/or subcutaneous tissue structure (body structure)	false	Inferred relationship	Some	2
Disorder involving the integument of fetus OR newborn	Is a	Disorder of skin and/or subcutaneous tissue (disorder)	false	Inferred relationship	Some
Disorder involving the integument of fetus OR newborn	Occurrence	Fetal or neonatal period	false	Inferred relationship	Some	1
Disorder involving the integument of fetus OR newborn	Is a	Disorder of foetus and/or newborn	true	Inferred relationship	Some
Disorder involving the integument of fetus OR newborn	Is a	Disorder of integument	true	Inferred relationship	Some
Disorder involving the integument of fetus OR newborn	Finding site	Structure of integumentary system (body structure)	false	Inferred relationship	Some	2
Disorder involving the integument of fetus OR newborn	Occurrence	Fetal and/or neonatal period	true	Inferred relationship	Some	1
Disorder involving the integument of fetus OR newborn	Finding site	Structure of integumentary system (body structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Sclerema neonatorum	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
sklerodermi hos nyfødt	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Bronze baby	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Transient neonatal pustulosis	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Perianal dermatitis of newborn	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Subcutaneous fat necrosis of newborn	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Neonatal erythroderma	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Panniculitis in newborn	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Umbilical polyp of newborn	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Neonatal facial petechiae	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Traumatic neonatal facial cyanosis	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Harlequin change	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Phototherapy skin rash	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Erythema toxicum neonatorum	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Urticaria neonatorum	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Neonatal acne	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Cradle cap	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Generalised seborrhoeic dermatitis of infants	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Dermatitis of the newborn	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Edema of newborn	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Neonatal lupus erythematosus	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Neonatal adnexal polyp	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Gangrene of newborn	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
ødem hos nyfødt, uspecificeret	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
andre perinatale hudsygdomme	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
perinatal hudsygdom, ikke nærmere specificeret	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
[X]Other and unspecified edema specific to fetus and newborn	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
[X]Other specified conditions of the integument specific to fetus and newborn	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Anden specificeret perinatal hudsygdom	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Neonatal dermatosis (disorder)	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Perinatal skin trauma due to obstetric injury (disorder)	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Neonatal iatrogenic skin trauma (disorder)	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Perinatal superficial soft tissue trauma due to obstetric injury	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Overfladisk hæmatom hos foster ELLER nyfødt	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Neonatal pseudo-hydrocephalic progeroid syndrome	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Neonatal annular erythema	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Neonatal disorder of subcutaneous fat (disorder)	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Diffuse fetal skin edema (disorder)	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Petekkier hos foster eller nyfødt	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Perinatal disorder of integument (disorder)	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Harlequin fetus	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Scalpel wound of fetal skin due to and during delivery procedure (disorder)	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
A rare severe genetic autoinflammatory syndrome characterised by usually neonatal onset of generalised neutrophilic cutaneous pustulosis and severe recurrent multifocal aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14.	Is a	False	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Fetal purpura (disorder)	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Neurocutaneous syndrome	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Farber's lipogranulomatosis	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Menkes kinky-hair syndrome	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
A syndrome with characteristics of facial dysmorphism, a progeroid appearance, large and late closing fontanelle, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Congenital anomaly of integument	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Extensive congenital erosions, vesicles and reticulate scarring (disorder)	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Congenital diffuse lipomatosis	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Reticulate acropigmentation of Kitamura	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Geroderma osteodysplastica	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Mixed haemangioma	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Congenital total lipodystrophy (disorder)	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Congenital accessory skin tag	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Congenital hamartoma of skin (disorder)	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Legius syndrome	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Congenital livedo reticularis	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Erythema palmare hereditarium is a rare, benign, congenital genetic skin disorder characterised by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
A rare genetic progeroid syndrome with a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrhythmia and skeletal anomalies. Patients typically present with widely opened fontanelle, mainly truncal hypotonia, waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat. There is evidence this disease is caused by mutation in the NAA10 gene on chromosome Xq28.	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
A rare genetic progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair. There is evidence the disease is caused by homozygous mutation in the BANF1 gene on chromosome 11q13.	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
A rare genetic premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, and hypertriglyceridemia and diabetes mellitus/insulin resistance. Caused by heterozygous mutation in the POLD1 gene on chromosome 19q13.	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others.	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches.	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
A rare multiple congenital anomalies syndrome characterised by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and abnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on.	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Congenital cutaneous angiomatosis	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Congenital syphilitic pemphigus	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Congenital keratoderma	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
A rare genetic progeroid syndrome disorder with characteristics of a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose. There is evidence the disease is caused by heterozygous mutation in the PDGFRB gene on chromosome 5q32.	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of facial dysmorphism (mild eyelid ptosis, xanthelasma, anteverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and cafe-au-lait spots, as well as mild soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There has been no further description in the literature since 1984.	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
A rare genetic dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe usually early-onset pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (such as bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only). Caused by homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13.	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
A rare genetic dermis elastic tissue disease with characteristics of redundant, over folded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated.	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Congenital benign giant pigmented nevus of skin (disorder)	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
A rare genetic skin disease characterized by congenital generalized anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail, or other skin or extracutaneous anomalies are absent.	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Encephalocraniocutaneous lipomatosis	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Mongolian spot	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Verrucous hemangioma of skin	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
A combination of congenital hyperpigmented and hypopigmented skin lesions coexisting in the same individual.	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some
Congenital cutaneous mastocytosis	Is a	True	Disorder involving the integument of fetus OR newborn	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
178714019	Disorder involving the integument of fetus OR newborn	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
631907019	Disorder involving the integument of fetus OR newborn (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1913761000005114	Sygdom der involverer integumentet hos foster ELLER nyfødt	da	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Danish module (core metadata concept)