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111474003: Fetal and/or neonatal disorder of integument (disorder)

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
5429133017 Fetal and/or neonatal disorder of integument en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5429134011 Fetal and/or neonatal disorder of integument (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6061171000241119 affection avec atteinte du tégument du fœtus ou du nouveau-né fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6061181000241117 affection impliquant le tégument du fœtus ou du nouveau-né fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

860 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Fetal and/or neonatal disorder of integument Is a atteintes affectant les téguments et/ou la régulation de la température du fœtus ou du nouveau-né false Inferred relationship Some
Fetal and/or neonatal disorder of integument Is a Dermatosis of infancy false Inferred relationship Some
Fetal and/or neonatal disorder of integument Occurrence Perinatal state false Inferred relationship Some
Fetal and/or neonatal disorder of integument Finding site Skin structure false Inferred relationship Some
Fetal and/or neonatal disorder of integument Finding site Fetal structure false Inferred relationship Some
Fetal and/or neonatal disorder of integument Occurrence Neonatal false Inferred relationship Some
Fetal and/or neonatal disorder of integument Occurrence Fetal period false Inferred relationship Some
Fetal and/or neonatal disorder of integument Occurrence période périnatale false Inferred relationship Some
Fetal and/or neonatal disorder of integument Occurrence Infancy false Inferred relationship Some
Fetal and/or neonatal disorder of integument Finding site Skin and/or subcutaneous tissue structure (body structure) false Inferred relationship Some 2
Fetal and/or neonatal disorder of integument Is a Disorder of skin and/or subcutaneous tissue (disorder) false Inferred relationship Some
Fetal and/or neonatal disorder of integument Occurrence Fetal or neonatal period false Inferred relationship Some 1
Fetal and/or neonatal disorder of integument Is a Fetal and/or neonatal disorder true Inferred relationship Some
Fetal and/or neonatal disorder of integument Is a Disorder of integument true Inferred relationship Some
Fetal and/or neonatal disorder of integument Finding site Structure of integumentary system (body structure) false Inferred relationship Some 2
Fetal and/or neonatal disorder of integument Occurrence Fetal and/or neonatal period true Inferred relationship Some 1
Fetal and/or neonatal disorder of integument 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 Fetal and/or neonatal disorder of integument Inferred relationship Some
Scleroderma in newborn Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Bronze baby Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Transient neonatal pustulosis Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Perianal dermatitis of newborn Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Subcutaneous fat necrosis of newborn Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Neonatal erythroderma Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Panniculitis in newborn Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Umbilical polyp of newborn Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Neonatal facial petechiae Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Traumatic neonatal facial cyanosis Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Harlequin change Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Phototherapy skin rash Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Erythema toxicum neonatorum Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Urticaria neonatorum Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Neonatal acne Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Cradle cap Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Generalized seborrheic dermatitis of infants Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Dermatitis of the newborn Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Edema of newborn Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Neonatal lupus erythematosus Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Neonatal adnexal polyp Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Gangrene of newborn Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Edema of newborn unspecified Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Other perinatal skin disorders Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Perinatal skin disorder NOS Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
[X]Other and unspecified edema specific to fetus and newborn Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
[X]Other specified conditions of the integument specific to fetus and newborn Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Other specified perinatal skin disorder Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Neonatal dermatosis (disorder) Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Perinatal skin trauma due to obstetric injury (disorder) Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Neonatal iatrogenic skin trauma (disorder) Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Perinatal superficial soft tissue trauma due to obstetric injury Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Superficial hematoma in fetus OR newborn Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Neonatal pseudo-hydrocephalic progeroid syndrome Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Neonatal annular erythema Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Neonatal disorder of subcutaneous fat (disorder) Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Diffuse fetal skin edema (disorder) Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
pétéchies chez le fœtus ou le nouveau-né Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Perinatal disorder of integument (disorder) Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Harlequin fetus Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Scalpel wound of fetal skin due to and during delivery procedure (disorder) Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized 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. Is a False Fetal and/or neonatal disorder of integument Inferred relationship Some
Fetal purpura (disorder) Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Neurocutaneous syndrome Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Farber's lipogranulomatosis Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Menkes kinky-hair syndrome Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Congenital anomaly of integument Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Extensive congenital erosions, vesicles and reticulate scarring Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Congenital diffuse lipomatosis Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Reticulate acropigmentation of Kitamura Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Geroderma osteodysplastica Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Mixed haemangioma Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Congenital total lipodystrophy (disorder) Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Congenital accessory skin tag Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Congenital hamartoma of skin (disorder) Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Legius syndrome Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Congenital livedo reticularis Is a True Fetal and/or neonatal disorder of integument 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 Fetal and/or neonatal disorder of integument 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 Fetal and/or neonatal disorder of integument Inferred relationship Some
Ogden syndrome is a rare, genetic progeroid syndrome characterized by 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 arrythmias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat. Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Nestor-Guillermo progeria syndrome is 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. Is a True Fetal and/or neonatal disorder of integument 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, hypertriglyceridemia and diabetes mellitus/insulin resistance. Is a True Fetal and/or neonatal disorder of integument 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 Fetal and/or neonatal disorder of integument 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 Fetal and/or neonatal disorder of integument 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 Fetal and/or neonatal disorder of integument 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 Fetal and/or neonatal disorder of integument Inferred relationship Some
Congenital cutaneous angiomatosis Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Congenital syphilitic pemphigus Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Congenital keratoderma Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
A rare, genetic, progeroid syndrome disorder characterized by 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. Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (mild eyelid ptosis, xanthelasma, anteverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and café-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 Fetal and/or neonatal disorder of integument 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 (i.e. bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only). Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded 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 Fetal and/or neonatal disorder of integument 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 Fetal and/or neonatal disorder of integument Inferred relationship Some
Congenital benign giant pigmented nevus of skin (disorder) Is a True Fetal and/or neonatal disorder of integument 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 Fetal and/or neonatal disorder of integument Inferred relationship Some
Encephalocraniocutaneous lipomatosis (disorder) Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Mongolian spot Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Verrucous hemangioma of skin Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
A combination of congenital hyperpigmented and hypopigmented skin lesions coexisting in the same individual. Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some
Congenital cutaneous mastocytosis Is a True Fetal and/or neonatal disorder of integument Inferred relationship Some

This concept is not in any reference sets

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